bluuebunny/crossref_metadata_2025 huggingface dataset:
The position of the external ear in Turner's syndrome
Authors: Horowitz Sidney L. , Morishima Akira , Vinkka Heli
Published: July 2010

The cephalometric roentgenograms of persons with the syndrome of XO gonadal dysgenesis and its variants, and of those with Noonan's syndrome, were compared with a control sample of unaffected females matched for age. Posterior craniofacial relationships differ between XO and normal individuals, particularly in the region of the external auditory meatus, which is located relatively more inferiorly and anteriorly in XO gonadal dysgenesis subjects than in chromosomally normal persons. Individuals who are mosaics, and those with Noonan's syndrome, do not differ from the unaffected population to the same extent. Although the position of the auricle often changes appreciably with growth when judged by clinical criteria alone, cephalometric analysis of relative ear position may still support the diagnosis of “low‐set” ears.
Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature
Authors: Rosemann A. , Shapira T. , Cohen M. M.
Published: July 2010

A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases previously reported in the literature, autosomal dominant inheritance is the most likely mode of transmission of these conditions.
Four cases of omphalocele in two generations of the same family
Authors: Osunal A. , Lindham S.
Published: July 2010

A family in which four cases of omphalocele were found within two generations is presented. One of the patients also had Down's syndrome. To our knowledge, this is the first report of such an occurrence in one family.
Further evidence for the existence of genetically determined metabolic differences between Lp(a+) and Lp(a‐) individuals
Authors: Dahlén G. , Berg K.
Published: July 2010

Thirty, presumably healthy, middle‐aged males from Northern Sweden were studied in September 1973 and again in February 1975. Mean fasting cholesterol and triglyceride concentrations were significantly higher at the latter investigation than they were at the former in the total group and in the Lp(a+) group, but not among those who were Lp(a‐). Furthermore, estimation of free thyroxine factor yielded significantly higher results in the Lp(a‐) than in the Lp(a+) group.

In a previous paper, we reported significant differences between Lp(a+) and Lp(a‐) individuals with respect to the relationships between insulin level and blood glucose concentration, and between insulin level and fasting triglyceride concentration. The combined results of the present and previous studies suggest that inherited metabolic differences exist between Lp(a+) and Lp(a‐) individuals. In view of the association which has been found between the phenotype Lp(a+) and coronary heart disease it seems plausible that these differences may be of clinical importance.
The X chromosome in Duchenne's muscular dystrophy
Authors: Katsantoni Aspasia
Published: July 2010

A search for deficiencies on one X chromosome of four obligatory and four probable heterozygotes for Duchenne's muscular dystrophy was unsuccessful. This probably excludes deficiencies larger than half the width of any band or interband.
Reference interval for maternal serum alpha‐fetoprotein
Authors: Norgaard‐Pedersen B. , Schultz‐Larsen P.
Published: July 2010

Maternal serum alpha‐fetoprotein (AFP) concentration was measured in 237 samples taken throughout the pregnancies of 28 normal pregnant women who all gave birth to normal infants. The patterns from these 28 individual curves were compared graphically with an earlier published non‐parametric 90% reference interval based upon single serum samples from other normal, pregnant women. The two “reference areas” were found to be quite similar. Maternal serum AFP values before and after induced abortion in a case of acrania and spina bifida demonstrated the value of serial maternal serum AFP quantitations in cases of suspected neural tube defects (NTD).
Trisomy of chromosome 20
Authors: Pan Sylvia F. , Fatora S. Robert , Haas Joel E. , Steele Mark W.
Published: July 2010

A neonate with unusual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotype of 47, XX,+20.
An extra small metacentric chromosome identified as a deleted chromosome No. 17
Authors: Palutke Waldemar , Chen Harold , Woolley Paul , Espiritu Ceres , Vogel H. Lauren , Gohle Norma , Tyrkus Michael
Published: July 2010

In an 11‐year‐old girl with multiple congenital abnormalities and mental retardation, an extra, small, metacentric chromosome was identified by banding methods as a deleted chromosome No. 17. This represents the first reported case of partial trisomy 17.
An anomaly in the inheritance of haptoglobin types in Down's syndrome: A study of mother‐child pairs
Authors: Brackenridge C. J. , Pitt D. B.
Published: July 2010

A sample of 95 mother‐child pairs provided evidence that plasma haptoglobin (Hp) types are inherited in an unusual manner by children with Down's syndrome. Homozygous mothers gave birth to more homozygotes and fewer heterozygotes than expected. Among offspring of heterozygous mothers, the frequencies were distributed essentially as expected. No abnormality was found in a normal control sample of 151 mother‐child pairs. Using this material it was demonstrated that the anomalous Hp inheritance in Down's syndrome was not due simply to an increase in maternal age when the children were born.
The genetics of and associated clinical findings in humero‐radial synostosis
Authors: Hunter Alasdair G. W. , Cox Diane W. , Rudd Noreen L.
Published: July 2010

This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero‐radial synostosis with the aim of determining ways of separating these forms on clinical grounds. The genetic forms are characterized by bilateral involvement and by lack of the distal ulnar malformations and the absence of digits that are common in the sporadic cases. The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency of malformations in addition to those of the limbs. Consanguinity is frequent in the families of recessive cases. Four additional patients are presented; two of them illustrate many of the features of the phocomelic syndrome reported by Herrmann et al. (1969). A possible teratogenic cause of these cases is discussed.
Natal teeth, patent ductus arteriosus and intestinal pseudo‐obstruction: A lethal syndrome in the newborn
Authors: Harris David J. , Ashcraft Keith W. , Beatty Eugene C. , Holder Thomas M. , Leonidas John C.
Published: July 2010

Two male siblings with natal teeth, patent ductus arteriosus and intestinal pseudo‐obstruction have been observed. This may be a new X‐linked recessive lethal syndrome.
Clinical diagnosis of Down's syndrome
Authors: Jackson J. F. , III E. R. North , Thomas J. G.
Published: July 2010

A physical examination checklist of 25 signs of Down's syndrome was used to predict the presence or absence of 21‐trisomy in 291 individuals examined for suspected Down's syndrome. Using only total numbers of signs present, 21‐trisomy was unambiguously predicted in about half those examined. Discriminant analysis using the most informative 10 signs misclassified only 11 of 169 infants aged 2 years or less, and allowed non‐overlapping classification into Down's and non‐Down's of almost three‐fourths of suspected individuals. The risk for Down's syndrome in the overlap area was 58 %.
Congenital generalized fibromatosis: an autosomal recessive condition?
Authors: Baird Patricia A. , Worth Ann J.
Published: July 2010

Congenital generalized fibromatosis is a rare condition which is often misdiagnosed and given an erroneously poor prognosis. Five new cases are presented in this report, all initially having been diagnosed as neurofibromatosis. The histopathological findings are presented and the differential diagnosis is discussed.

The natural history of the disorder appears to include an initial phase of proliferation soon after birth with appearance of new tumor masses. Providing these do not involve vital viscera, the patient survives with regression and eventual disappearance of all lesions. Spontaneous regression occurred in all five patients reported. Two sets of sibs occurred in the cases described. The possible genetic aspects of this are discussed and the pertinent literature reviewed.
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency
Authors: O'Brien John S. , Gugler E. , Giedion A. , Wiessmann U. , Herschkowitz1 N. , Meier C. , Leroy J.
Published: July 2010

A 14‐year‐old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid β‐galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1β‐galactosidase activity averaged 7 % of the normal mean while asialofetuin β‐galactosidase and 4‐methylumbelliferyl‐β‐galactosidase averaged 1.4 % and 3.5 %, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50 % of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1β‐galactosidase.
Lysosomal enzyme levels in human amniotic fluid cells in tissue culture:IV. %A N‐acetyl‐β‐D‐glucosaminidase
Authors: Butterworth J. , Sutherland G. R. , Guy G. J. , Bower‐Riley S. , Bain A. D.
Published: July 2010

Total and % A hexosaminidase were similar for primary cultures and later passages of amniotic fluid cells. The culture variables ‐ through serial passage, within a passage and replicate primary cultures ‐ resulted in some variation in total hexosaminidase, but an insignificant change in % A hexosaminidase. They are unlikely to give rise to any problems in the antenatal diagnosis of Sandhoff's and Tay‐Sachs diseases.
Cutis laxa and lamellar ichthyosis in siblings
Authors: Kaye Qlia I. , Esterly Nancy B. , Bocth Carol W.
Published: July 2010

Cutis laxa and lamellar ichthyosis are two rare, genetically‐determined skin disorders. The pedigree reported represents the first documentation of the occurrence of these two disorders in a single sibship.
Analbuminemia in an American Indian girl
Authors: Boman H. , Hermodson M. , Hammond C. A. , Motulsky A. G.
Published: July 2010

Analbuminemia was fortuitously detected in a nonedematous 12‐year‐old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus. Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin. The patient's parents were remotely related. The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia. Heterozygotes had subnormal levels of serum albumin.

The Gc‐locus is closely linked to the structural albumin locus. Gc‐protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia. Gc‐types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc‐locus. These findings suggest a “thalassemia”‐like mutation for this disorder.
Cystic fibrosis: A cell culture study on an adult patient population*
Authors: Danes B. Shannon , Hodson Margaret E. , Batten J.
Published: July 2010

Skin fibroblast cultures from an adult population of cystic fibrosis (CF) patients have been studied to determine any possible genetic or clinical significance of the two classes described for cultured CF skin fibroblasts (Danes 1973).
Mucolipidosis II and III: different residual activity of beta‐galactosidase in cultured fibroblasts*
Authors: Leroy J. G. , O'Brien J. S.
Published: July 2010

A biochemical difference is found between the mucolipidoses II and III which may be correlated with their clinical phenotypes. In homogenates of mass‐cultured I‐cells from patients with MLII (I‐cell disease), the residual specific activity of beta‐galactosidase is between 3 and 5 times lower than that in the I‐cells from patients with MLIII (pseudo‐polydystrophy). This difference is confirmed in several covershlip culture experiments where conditions of inoculation, propagation, harvest and enzyme assays are rigidly controlled. MLIII cells also hydrolyse the natural substrates asialofetuin‐(H)3‐galactoside and GM1‐(H)2‐galactoside more easily. This observation offers support to the hypothesis that beta‐galactosidase may play a role in the physiopathology of these mucolipidoses.
Segregation within a family of two mutant alleles for hexosaminidase A
Authors: Kelly Thaddeus E. , Reynolds Linda W. , O'Brien John S.
Published: July 2010

A healthy adult female was found to have low levels of hexosaminidase A in serum, leukocytes and fibroblasts when these were assayed with artificial substrates. Fibroblast assay with GM2 ganglioside gave values consistent with a Tay‐Sachs heterozygote. Studies of this non‐Jewish family revealed evidence for segregation of two mutant alleles for hexosaminidase A.
Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk
Authors: Wienker Thomas F. , Utermann Gerd , Ropers Hans‐Hilger
Published: July 2010

Cultivated amnion cells obtained from a pregnancy at risk for the homozygous form of familial hypercholesterolemia were analyzed, as were fibroblasts from normal, heterozygous and homozygous controls. Three different methods were employed in order to compare their diagnostic value:

Acetate incorporation into the cellular 3β1‐OH‐sterol fraction;

LDL‐binding to the cell surface receptor; and

Oleate incorporation into the cholesterylester pool of the cells after addition of LDL to lipoprotein‐deficient growth medium.

The best discrimination between normal, heterozygous and homozygous cells was achieved using the third technique. On the basis of the acetate incorporation analysis, we concluded that the child is not homozygous, but probably completely unaffected. This diagnosis was confirmed by repeated determinations of plasma cholesterol levels during the first 11 months of life.

Our investigations further substantiate the speculation that prenatal diagnosis of this disorder is possible.
Description of the banding patterns of human chromosomes by acridine orange reverse banding (RFA) and comparison with the Paris banding diagram
Authors: Verma Ram S. , Lubs Herbert A.
Published: July 2010

A reference diagram is presented which is comparable to the Paris banding diagram but which was based primarily on chromosomes studied by acridine orange reverse banding. Comparison with the Paris Conference (1971) banding diagram was made. Bands were combined in 13 instances and subdivided in 10 cases. The number of bands was found to depend primarily upon the length and quality of the chromosomes. No major differences between the present diagram and the Paris banding diagram were observed. Moreover, the results with acridine orange reverse banding were comparable to those previously reported with Giemsa R banding. In addition, sequential Q banding and R banding were carried out in the same cells. No significant differences in resolution of bands were observed when these two techniques were compared.
Specific 5α‐dihydrotestosterone binding in labial skin fibroblasts c1ultured from patients with male pseudohermaphroditism
Authors: Kaufman Morris , Straisfeld Cipia , Pinsky Leonard
Published: July 2010

The cytoplasm of skin fibroblasts serially subcultured from the labium majus of normal human females binds 5α‐dihydrotestosterone (5α‐DHT) with high affinity and low capacity. Such binding was absent from the strains of two male pseudohermaphrodites with unambiguous female external genitalia: one of these was from a patient with the clinical features and a family history typical of complete testicular feminization; the other merited the same diagnosis on anatomic and endocrine grounds, but had an XYY karyotype in multiple tissues, including the testes. Normal cytoplasmic binding was found in strains from two prepubertal male pseudohermaphrodites with bilateral inguinal testes: one had unambiguous female external genitalia, the other had clitoromegaly; the former had normal specific nuclear binding of Sα‐DHT, and thereby the target cell capacity for pubertal masculinization. Measurement of specific 5α‐DHT binding by cultured labial skin fibroblasts should be an early step in the investigation of male pseudohermaphroditism with female external genitalia.
Significance of HLA and blood‐group incompatibility in spontaneous abortion
Authors: Lauritsen J. Glenn , Jørgensen J. , Kissmeyer‐Nielsen F.
Published: July 2010

The frequencies of antigen‐incompatible matings within the HLA, Rhesus, Lutheran, MN, S. Lewis, Kell, P and Duffy systems were studied in 481 parents of karyotyped spontaneous abortuses. The results were compared with the calculated mating frequencies in control samples consisting of 1,197 (HLA) and 12,123 (the remaining eight systems) individuals, respectively. The only significant difference observed at the 5 % level was an increased frequency of matings in which the mother was Lu (a +) and had a karyo‐typically abnormal abortus. It is concluded that antigen incompatibility between the parents within the nine systems studied is not important in the aetiology of early spontaneous abortion or causative in the origin of chromosome anomalies in the foetus.
Chromosomal breaks in T and B lymphocytes in Fanconi's anemia
Authors: BushkeLL Lawrence L. , Kersey John H. , Cervenka Jaroslav
Published: July 2010

Three patients with Fanconi's anemia were analyzed for chromosome breaks. T and B cells were separated and grown in tissue culture with PHA and pokeweed antigen to ascertain the rates of breakage in these lymphocytic subpopulations. It has been found that there is no statistically significant difference in breakage rates in T and B lymphocytes. It is postulated that both T and B cells could be involved in the development of leukemia in Fanconi's anemia patients, assuming that chromosome breaks constitute a factor predisposing to the development of malignancy.
Estimates of the heritability of serum lipoprotein and lipid concentrations
Authors: Weinberg Roger , Avet Linda M. , Gardner Martin J.
Published: July 2010

Heritability (h2) of a serum lipid or a serum lipoprotein concentration is the proportion of variability in that concentration, among individuals, which is associated with heredity.

We derive a familiar formula for estimating heritability (h2) from a simple linear model for inheritance. The formula was implied by Fisher (1918) and by Wright (1921); it was derived from a consideration of variances by Jensen (1967), and from a consideration of path coefficients by Rao et al. (1974). The estimate of heritability (?2) is

?2= 2(rMZ ‐ rDZ)

for twin studies, where rmz and rDZ are the sample intraclass correlation coefficients among monozygous and dizygous twins, respectively. We calculate ?2 for some published twin data (Heiberg 1974) on serum lipoprotein and serum lipid concentrations.
Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations
Authors: Noel B. , Quack Bernadette , Rethore Marie Odile
Published: July 2010

New techniques of human karyotyping have allowed us to define accurately the banding pattern of six new cases with partial duplication or deficiency of chromosome 13. It now seems possible to draw a rough map of chromosome 13, correlating observed malformations and phenotypic features with specific chromosome regions. Partial monosomy shows clinical features which are the antithesis of the corresponding trisomic phenotype: (Lejeune 1966).
White cell function in Down's syndrome
Authors: Costello Christine , Webber Anne
Published: July 2010

Neutrophil function was studied in 25 patients with Down's syndrome at a mental subnor‐mality hospital and compared with 26 normal controls. In vitro killing of Candida albicans was significantly lower in the Down's group, but there was no difference in the percentage of cells actively involved in phagocytosis or in the phagocytic index. The spontaneous nitroblue tetrazolium reduction was increased in 10 patients, but no abnormality of pero‐xidase activity or leucocyte alkaline phosphatase activity was found.
High variability in mongoloid dermatoglyphs
Authors: Hall Bertil , Rignell Anders
Published: July 2010

An examination of the finger‐tip dermatoglyphs in mongoloids and their close relatives is presented. The result shows a higher variability in the group of mongoloids.
Y/autosomal translocations
Authors: Nielsen J. , Ramussen K.
Published: July 2010

We found six children with presumptive Y/autosomal translocation in a study of 11,148 liveborn children at the Århus State Maternity Hospital, Denmark. The present study deals with the results of family investigation of the six children, who were found in five families.
Mental retardation, malformation syndrome and partial 7p monosomy [45, XX, tdic (7;15) (p21;pll)]
Authors: Nakagome Yasuo , Teramura Fumio , Kataoka Kenkichi , Hosono Fumitoshi
Published: July 2010

A mentally retarded and malformed girl is described. Her karyotype was 45, XX, tdic(7;15) (p21;p11), i.e. she was monosomic for bands 7p22 and a part of 7p21. Only one of the two centromeres of the dicentric chromosome appeared to be functioning. The C‐band positive material was retained by both centromeres (or adjacent to them). However, the Cd‐band positive structure was absent in the presumably nonfunctioning centromere region.
Familial Lipogranulomatosis (Farber's disease)
Authors: Amirhakimi G. H. , Haghighi Parviz , Ghalambor M. A. , Honari S.
Published: July 2010

Farber's disease (generalized lipogranulomatosis) is described in three affected siblings, products of a consanguineous marriage between first cousins. The clinical, laboratory, pathological and histochemical findings in one of these cases are reported in detail. This is the first recorded observation of Farber's disease in Iran.
Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27)
Authors: Chen Harold , Tyrkus Michael , Cohen Flossie , Woolley Paul V. , Mayeda Kaz , Bhogaonker Anant , Espiritu Ceres E. , Simpson William
Published: July 2010

Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6)(q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.
Comparison of alphafetoprotein and β‐ trace protein in the antenatal diagnosis of anencephaly and spina bifida
Authors: Brock D. J. H. , Olsson J. E.
Published: July 2010

Alphafetoprotein (AFP) and β‐trace protein (BTP) concentrations have been measured in amniotic fluids taken from 19 pregnancies where the outcome was an infant with a neural tube defect and from 19 matched controls. There was no significant difference in the mean BTP values for the pathological samples when compared with the controls, and there were no striking differences in the values within individual matched pairs. On the other hand, the mean AFP concentration in the abnormal amniotic fluids was approximately 15 times the mean value found in the controls. Differences within individual pairs were particularly noticeable early in pregnancy. It is concluded that BTP is of no use for the early antenatal diagnosis of anencephaly anencephaly and spina bifida.
Chromosome survey of new patients admitted to the four maximum security hospitals in the United Kingdom
Authors: Price W. H. , Brunton Muriel , Buckton Karin , Jacobs Patricia A.
Published: July 2010

In a survey of male patients admitted to the four maximum security hospitals in the United Kingdom during 1972 and 1973, 26 out of 611 (4.26 %) karyotyped were found to have chromosome abnormalities. Of these, 13 (2.13 %) had a 47,XYY abnormality; 5 (0.8 %) were chromatin positive but two of these had cell lines that included an extra Y chromosome, one being a 48,XXYY male and the other a mosaic 48,XXYY/47,XYY. Eight patients with autosomal abnormalities included two with Down's syndrome and a 47,XY,+21 karyotype, two with small supernumerary chromosomes, 47,XY + mar, and two with inherited balanced translocation.

As in the prevalence studies of patients in these high security hospitals, the significant finding was the very high frequency of males with extra Y chromosomes. In this survey, it was most marked in the younger patients and particularly in those who were aged 20 years or less (approximately 6 %). As a group the XYY males were therefore significantly younger than all other male admissions. As in previous surveys they were also significantly taller and 60 % were 185 cm or more in height. There were no other distinguishing physical characteristics associated with the 47,XYY karyotype. In all but two patients the behaviour disturbances were attributable to psychopathic disorders and mental subnor‐mality was diagnosed no more frequently than in the total population studied (approximately 50 %).
Clinical and biochemical expression of a unique mucopolysaccharidosis
Authors: O'Brien John S. , Nyhan William L. , Shear Carol , Schmidt Louise , Veath M. Lois
Published: July 2010

A boy who presented with painful joints leading to contractures was found to have a mucopolysaccharidosis not previously described. He had severe dysostosis multiplex of the long bones but nearly normal intellectual development and no involvement of the cornea. Lysosomal storage vacuoles were noted in dermal endothelial cells; these were similar to those seen in the genetic rnucopolysaccharidoses. Mucopolysacchariduria was not excessive in amount but it was distinctly abnormal in pattern and his excretion of dermatan sulfate resembled that found in the Hunter and Hurler syndromes. The activities of the lysosomal hydrolases in cultured fibroblasts were normal or increased. The degradation of accumulated 35S‐mucopolysaccharide in fibroblasts in culture was typical of a mucopolysaccharidosis. His mother accumulated 35S‐mucopolysaccharides in fibroblasts, suggesting an X‐linked inheritance of the disorder.
Three successive prenatal diagnoses of 47,XY,+21
Authors: Hsu Lillian Y. F. , Godmilow Lynn , Serotkin Andrea V. , Hirschhorn Kurt
Published: July 2010

Within 3 working days in September, 1974, we made three prenatal diagnoses of 47,XY, +21 from three women of advanced maternal age. Two were 37 and 38 years old, respectively, and nulliparous. One was 42 years old and had four normal children. The possibility of cell contamination arose when the second diagnosis of trisomy 21 and a male fetus was made. This suspicion increased when the third case was found within 3 working days. All three cases were then studied with both Q and G banding for identification of individual chromosome markers. Fortunately, the distinction was clear by Q‐banding. Each case showed characteristic Q‐banding polymorphisms in No. 3 and No. 21 chromosomes. It was evident that these were three separate cases. Problems relating to diagnosis of two or more successive identical trisomies of the same sex can be resolved by banding techniques. The response each family had to learning the diagnosis is presented and discussed.
Dermatoglyphics in mosaic Down's syndrome
Authors: Priest J. H. , Tishler P. V. , Rosner B.
Published: July 2010

To determine whether quantitative dermal indices are useful in ascertaining the liability for or severity of mosaic Down's syndrome (DS), dermatoglyphics of 107 subjects with proven 46/47,+ 21 DS were scored by four quantitative dermal indices. The distribution of mosaics by weighted mean percentage of +21 cells ranged from 1 to 95 and was bimodal. Mean maternal age at birth of mosaics (32.9 ± 7.5 years) was elevated when compared with control maternal ages in the literature.

The distribution of quantitative dermal indices for the total mosaic population fell roughly midway between those in the literature for normal and full DS individuals: 73 % of mosaics were classified as definitively DS, 21 % were in the intermediate range, and 6 % were normal. For mosaics who were minimally affected, 24 % were DS, 53 % intermediate, and 23 % normal. One can conclude: (1) For any suspect mosaic, a dermal score in the DS range is highly suggestive of karyotypic pathology. (2) The high prevalence of intermediate scores in normal subjects severely restricts their diagnostic value in screening for mosaics in the general population. For a selected population, such as parents of + 21 children, the screening value of quantitative dermal indices remains an open question.

Weighted regression analyses demonstrate a highly significant correlation (P< 0.001) of dermal index score with the weighted mean proportion of +21 cells transformed to the logit scale. One may exploit this correlation to predict the ratio of +21/normal cells in infants, in whom early karyotype evolution can preclude an estimate of the ultimate syndrome based on initial degree of mosaicism. Furthermore, this correlation provides additional indirect evidence that dermal microsymptoms in DS are a reflection of the presence of +21 cells.
Three siblings with Robert's syndrome
Authors: Zergollern Ljiljana , Hitrec Vlasta
Published: July 2010

A Yugoslavian family with one female and two male infants with Robert's syndrome is described. The main features were: (1) tetraphocomelia with missing or malformed bones of arms and legs; (2) bilateral cleft lip and palate; (3) ectrodactyly; (4) syndactyly of the digits; (5) hypertelorism with exophthalmos at birth; (6) congenital heart defect; (7) low birth weight and failure to thrive. These observations raise the reported cases of Robert's syndrome ‐ including questionable ones ‐ to a total of 26. The most likely basic etiology is a major single recessive gene mutation.
Partial trisomy 5 with a carrier parent t(5p‐;9p+)
Authors: Monteleone P. , Monteleone J. , Sekhon G. , Hamilton W. , Volk S. L. R. , Grzegocki J. , Tietens M.
Published: July 2010

The significance of partial trisomies of the B group is as yet unknown. An infant with multiple congenital anomalies was found to have a partial trisomy 5pf syndrome. The father of this patient demonstrated a 5/9 translocation carrier state.

A discussion of the relationship of the partial 5p+ syndrome to the Cri du chat syndrome is noted. Partial trisomy 5 would not appear, as yet, to represent a clearly definable syndrome.
Chromosomal anomalies in patients with retinoblastoma
Authors: Wilson Miriam G. , Ebbin Allan J. , Towner Joseph W. , Spencer William H.
Published: July 2010

Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa‐banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 chromosome was identified by Giemsa‐banding in the karyotypes from a boy with unilateral retinoblastoma. Another boy with unilateral tumor had a karyotype of 47, XXY. These findings provide additional evidence that a deletion of chromosome No. 13, most likely involving band 13q14, is associated with the development of retinoblastoma. In conjunction with other reports, our findings also suggest that retinoblastoma may be found more frequently in children with chromosomal aneuploidy.
Partial trisomy 22: A recognizable syndrome
Authors: Garlinger Patricia , McGeary Scott A. , Magenis Ellen
Published: July 2010

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti‐mongoloid slant of the palpebral fissures, preauricular skin tags and low‐set ears.
Down syndrome and maternal age in Japan, 1950–1973
Authors: Kuroki Yoshikazu , Yamamoto Yoshifumi , Matsui Ichiro , Kurita Takehiko
Published: July 2010

The mean maternal age and the percentage age distribution of 2,650 mothers of children with Down syndrome were calculated for 1950–1973, from hospital records. Mean maternal age has dropped both for controls (28.55→27.37) and Down syndrome (31.26→29.59). The observed maternal age distributions were very similar to those expected in corresponding periods, from the age specific incidences of Collmann & Stoller (1962).

It is conceivable that the fall in maternal age in Down syndrome in recent years has resulted from the general trend to decreasing maternal age. There has been no change in the age‐specific incidences of Down syndrome. The incidence of Down syndrome seems to be falling in Japan.
A diagnostic index for Down syndrome
Authors: Preus M.
Published: July 2010

A simple and effective index for the diagnosis of Down syndrome is presented. It makes use of 12 characters with from two to nine states. The simple format allows persons with limited knowledge of the characters to use it. Simplicity was attained by combining character states when this did not result in a loss of discrimination and by avoiding characters that were redundant, subjective or difficult to evaluate. A combination of characters that occur frequently in Down syndrome (wide applicability) and characters that have a high relative frequency (high probability) was used. Additional data from comparable samples were used to calculate more representative scores for some characters.

Over 82% of suspected cases may be diagnosed as having or not having Down syndrome with 99.9% confidence. Conditional probabilities for the various scores are provided. Individuals whose scores are in the Down or non‐Down zones have a 98.7% probability or greater of having or not having the syndrome, respectively.

The index is more effective than others as measured both by the percentage of individuals with and without Down syndrome whose scores fall into distinct zones (overlap method) and by the percentage with Down syndrome who have positive scores and controls who have negative scores (single point classification).
Linking of medical records to form pedigrees
Authors: Braunstein Mark L. , Schuman Stanley H.
Published: July 2010

The human pedigree provides a highly organized representation of historical family morbidity. In order to allow for careful analysis of large numbers of pedigrees, we have developed an interactive computer system for their storage, retrieval and statistical review. The system is capable of integration with our computerized medical record through the use of a common classification (ICHPPC) for patient morbidity. This linkage of pedigrees to clinical data may allow a richer utilization of the clinical experience within Family Practice for the support of research into disease patterns within the family.
An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly
Authors: Martin Alice O. , Perrin Jane C. S. , Muir W. A. , Ruch E. , Schafer Irwin A.
Published: July 2010

We have detected a previously unrecognized autosomal dominant syndrome characterized by: mental retardation, microcephaly; craniofacial anomalies including cleft lip and anterior cleft palate, hypotelorism and antimongoloid slant; skeletal anomalies, notably of the foot and spine; and chronic constipation. Despite similarities to familial holoprosencephaly, this disorder appears to be a distinct entity.

Incomplete penetrance and variable expressivity accompany transmission of the abnormal allele through four generations of a large kindred. Three of the four affected males survived past 20 years of age; the fourth is an infant. All three affected females died very early in infancy.
Genetic variance of erythrocyte parameters in adult male twins
Authors: Lindemann J. P. , Kang K. W. , Christian Joe C.
Published: July 2010

Erythrocyte count, hematocrit, mean corpuscular volume and reticulocyte counts were measured in 59 pairs of monozygotic (MZ) and 69 pairs of dizygotic (DZ) adult, Caucasian male twins. The means of MZ and DZ twins were not significantly different for any of the traits measured. Erythrocyte count and mean corpuscular volume had significant estimates of genetic variance (P < 0.05).
Alpha‐I‐antitrypsin (Pi) phenotypes in Lyon, France: departure from Hardy‐Weinberg equilibrium
Authors: Arnaud P. , Pandey J. P. , Fudenberg H. Hugh , Chapuis‐Cellier C. , Vlltoz P. , Creyssel R.
Published: July 2010

The validity of the Hardy‐Weinberg equilibrium for Pi phenotypes was tested in a population of 1,653 randomly selected, healthy blood donors in Lyon, France. A significant departure from the equilibrium was found, with an excess of FF and SS homozygotes and a deficiency of FM heterozygotes.
The deletion 9p syndrome. A 61‐year‐old man with deletion of short arm 9
Authors: Nielsen J. , Homma A. , Christiansen F. , Rasmussen K. , Saldaña‐Garcia P.
Published: July 2010

Deletion of short arm 9 was found in a 61‐year‐old, mentally retarded male with few of the previously described signs typical of deletion of short arm 9 in children. A survey is given of the nine previously described cases of deletion of short arm 9.
Wolf‐Hirschhorn syndrome and balanced (4;10) translocation in the father
Authors: Hedner Karin , Carlsson Eric , Mitelman Felix
Published: July 2010

A case of inherited Wolf‐Hirschhorn syndrome, 46, XX, del(4)(p13), is described. The father of the affected child was found to have a balanced translocation, t(4;10)(p13;q26).
Distribution patterns of satellite associations in human lymphocytes relative to age and sex
Authors: Liem S. L. , Denton T. E. , Cheng K. M.
Published: July 2010

Using ammoniacal silver for differential staining of satellites, associations from 1,668 human metaphases were studied from lymphocyte cultures of 167 normal individuals and were correlated with age and sex. There is a peak in satellite association frequency up to age 20 years in males and to 25 in females. With older ages there is a decline in association frequencies. No associations with four or more chromosomes were found in newborns. Furthermore, association in newborns, as well as in individuals older than 50 years, are significantly low compared to in‐between age groups.

Females have a higher frequency of satellite associations than males between the ages of 3 and 50 years. Typically, females have greater multiple associations, while males have more single associations. Randomness or non‐randomness of occurrence of associations fluctuates for different age groups within and between the two sexes.
A t(5p‐;21q+) translocation in a family with Down syndrome
Authors: Neu Richard L. , DeGeorge Frances V. , Gardner Lytt I.
Published: July 2010

A mother and daughter carrying a t(5;21)(p13;q22) chromosome were discovered after they had contacted us for genetic counseling. They were concerned because of two cases of Down syndrome in their family. Four of the mother's eight pregnancies had resulted in miscarriages; the chromosome complements of the abortuses is not known. Evidence was found indicating that individuals carrying a structurally altered chromosome 21 have an increased risk of bearing a child with Down syndrome.
Linkage analysis with misclassification at one locus
Authors: Ott Jurg
Published: July 2010

It is demonstrated that in linkage analyses with a misclassification error p of the phenotypes at one locus, a wrong specification of p leads to a bias in the estimate of the recombination fraction. In particular, if p is not taken into account at all in the analysis, the recombination fraction is overestimated. This is shown for offspring of phase‐known double backcross matings. In the light of these results, the possible effects of dichotomization of quantitative phenotypes are discussed and illustrated with an example of the linkage between hypercholesterolemia and C3.
Mydriasis and heredity*
Authors: Goldsmith Robert I. , Rothhammer Francisco , Schull William J.
Published: July 2010

Routine ophthalmoscopy and fundoscopy of 673 individuals revealed 42 whose irides failed to dilate to a clinically useful degree within 25 to 30 min after the administration of drops of 1% mydracil. These individuals occurred with different frequency among the Aymara, Mestizo, and non‐Aymara groups which made up the sample of examinees. The phenomenon was most common among the Aymara, less common among the Mestizos, and least common among the non‐Aymara. Distribution of affected individuals within the three groups suggests that the trait is inherited.
Hereditary cholinesterase deficiency: A report of a family with two rare genotypes
Authors: Baker Edward L. , Smrek Ann , Kimbrough Renate D. , Hudgins Michael , Landrigan Philip J. , Liddle John A.
Published: July 2010

Cholinesterase deficiency was detected in a young girl following an episode of post‐anesthesia apnea. Subsequently, plasma and serum cholinesterase levels and dibucaine numbers were determined on blood samples from 56 members of her extended family. Including the proband, three individuals were identified with severe cholinesterase deficiency and 12 were found to have mild abnormalities. The occurrence of two genetic variants regulating cholinesterase production, the “silent” gene and the atypical enzyme, is postulated to account for the unusual pattern of inheritance in this family. Screening family members of confirmed cases is essential to prevent the potentially fatal consequences of this hereditary disorder.
Studies on the metabolic defect in Broad‐ß disease (hyperlipoproteinaemia type III)
Authors: Utermann G. , Canzler H. , Hees M. , Jaeschke M. , Mühlfellner G. , Schoenborn W. , Vogelberg K. H.
Published: July 2010

The apoprotein composition of the main lipoprotein fractions (VLDL, LDL‐1, LDL‐2 and HDL) was studied initially in 15 patients with Broad‐β disease. Analytical isoelectric focusing of urea‐soluble apo‐VLDL and apo LDL‐1 demonstrated a variant pattern of the polymorphic Apoprotein E with a deficient Apo E‐III band in all patients.

The Apo E‐III deficiency pattern was seen in only six out of 304 hyperlipidaemic controls. These six Apo E‐III deficient controls had characteristic signs of Broad+ disease, and thus represented patients not previously recognized as having the disorder.

The Apo E focusing patterns were constant on repeated examinations and were stable under different metabolic conditions. The data show that Apo E‐III deficiency in VLDL is a specific qualitative marker for Broad‐β disease, allowing an unequivocal diagnosis that had not been possible previously. Indirect evidence suggests that Apo E‐III deficiency is the basic lipoprotein abnormality underlying the familial dyslipoproteinaemia.
Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma
Authors: Fitzgerald P. H. , Miethke Patricia , Caseley R. T.
Published: July 2010

The karyotype of a 7‐month‐old child had 46 chromosomes, including five abnormal chromosomes in cultured lymphocytes. G‐banding indicated the presence of reciprocal translocation products between chromosomes 1 and 7 and between chromosomes 4 and 15. A probable third translocation involved the same chromosome 4p arm and 12q. All meta‐phases showed these changes. C‐band markers and the presence of reciprocal exchange products indicated that the chromosome changes occurred in the zygote or a post‐zygotic cell of the child. The mother developed malignant melanoma while carrying the child but did not receive therapy before its birth. The suggestion is made that an undetected common agent was involved in the aetiology of the mother's tumour and the clastogenic change to the child's chromosomes.
Bloom's syndrome. V. Surveillance for cancer in affected families
Authors: German James , Bloom David , Passarge Eberhard
Published: July 2010

The Bloom's Syndrome Registry comprises the 71 individuals in whom this rare genetic disorder has been recognized between the time it was described in 1954 and the end of 1976. The major objective of the Registry is surveillance for cancer in both affected homozygotes and heterozygotes. Of the 61 homozygotes known to have had Bloom's syndrome before cancer was diagnosed and for whom follow‐up has been possible, one in nine has developed cancer. Thirteen cancers have been diagnosed, in 12 individuals. The mean age in 1976 of the living individuals with the syndrome was 16.4 years. The mean age at the time cancer was diagnosed was 20 years. Cancers have been of multiple types and have affected various sites.
On the classification of the acrocephalosyndactyly syndromes
Authors: Escobar Victor , Bixler David
Published: July 2010

This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease.

Observations made in this family and from previous reports in the literature, we feel there is substantial reason to re‐evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.
The Stickler syndrome (Hereditary arthro‐ophthalmopathy)
Authors: Say Burhan , Berry Judy , Barber Nancy
Published: July 2010

Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre‐school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid‐facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thought.
The foetus in Duchenne muscular dystrophy: Muscle growth in tissue culture
Authors: Emery Alan E. H. , McGregor Louise
Published: July 2010

In tissue culture of muscle from five normal foetuses and four male foetuses at risk for Duchenne muscular dystrophy, no differences were found with regard to the ease with which cultures could be established and maintained, or in gross morphology or rate of growth and differentiation in culture. Yet before culture, muscle histology was clearly abnormal in at least one of the at‐risk foetuses. The identification of the particular conditions of culture which prevent the full expression of the dystrophic process might be profitably pursued as a possible first step to finding a treatment.
The origin of the rapidly adhering cells found in amniotic fluids from foetuses with neural tube defects
Authors: Gosden Christine , Brock D. J. H. , Eason Patricia
Published: July 2010

The number and morphologies of cells rapidly adhering to glass (RA cells) found in amniotic fluids from foetuses with neural tube defects is independent of soluble factors in the supernatant fluid. Cells taken directly from brain and spinal cord of normal foetuses, which are rapidly adherent in culture, show numerous similarities to those RA cells which are present in the amniotic fluids of foetuses with neural tube defects. This suggests that RA cells in amniotic fluid may be reliably used as a diagnostic marker of foetal lesions involving neural tissue, in particular spina bifida and anencephaly. Other RA cells extracted from foetal peritoneal cavity and bone marrow also have distinctive morphologies and may be useful in early antenatal diagnosis of congenital defects such as exomphalos.