bluuebunny/crossref_metadata_2025 huggingface dataset:
A complex mosaic with D/E translocation tdic(15;18) (p12;p11) in an oligospermic male with apparently total infertility
Authors: Singh‐Kahlon D. P. , Serra A. , Bova R.
Published: July 2010

A detailed cytogenetic analysis of a multiple line mosaic translocation carrier oligospermic infertile male is reported. The role of translocation mosaicism in gametogenetic and reproductive failure and the origin of this complex mosaic are briefly discussed.
No evidence for a correlation between behaviour and the size of the Y chromosome
Authors: Brøgger Anton , Urdal Trygve , Larsen Finn Brasch , Lavik Nils Johan
Published: July 2010

Y chromosome variation has been studied in three groups of Norwegian males: 35 boys from an adolescent psychiatric hospital; 45 men from a hospital for hard‐to‐manage or dangerous, psychotic men; and 26 boys from two ordinary school classes.

Y chromosomes with 1, 2, and 3 brightly fluorescing bands were found in all three groups. One boy carried a Y with no bands. The mean values of the Yf/Yq ratio were not significantly different in the three groups (Yf is the length of the distal, brightly fluorescing part of Yq). Two cases of XY/XYY mosaicism were found among the psychotic men.

The study shows that the human species is polymorphic with regard to the size of the Y chromosome, i. e. the number of fluorescent bands in the long arm. No phenotypical manifestation of this polymorphism, particuIarly as regards behaviour, was found.
Pachyonychia congenita and steatocystoma multiplex
Authors: Hodes M. E. , Norins A. L.
Published: July 2010

Pachyonychia congenita and steatocystoma multiplex are each rare conditions. It is still not widely appreciated that they are both manifestations of the same autosomal gene. Extensive clinical, X‐ray and laboratory investigations on two affected members of a family, in which three generations are known to be affected, failed to reveal any specific abnormality other than the skin and nail lesions.
Unusual association of Saethre‐Chotzen syndrome and congenital adrenal hyperplasia
Authors: Escobar Victor , Brandt Ira K. , Bixler David
Published: July 2010

This report describes and discusses the very rare occurrence of two heritable traits, the Saethre‐Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt‐losing type) in a female infant whose father presents the clinical manifestations of Saethre‐Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and compared.
Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7
Authors: Mohr Jan , Eiberg Hans
Published: July 2010

A material of normal Danish families was tested for a number of genetic marker systems and analyzed for linkage. For the Colton‐Kidd relationship the lod score was + 2.57. The Kidd system has earlier been tentatively assigned to chromosome 7 (Shokeir et al. 1973). The present data therefore permit a tentative assignment to chromosome 7 of the Colton system as well. The data also suggest that the discovery by Chapelle et al. (1975) of a conjunction of monosomy for chromosome 7 in the bone marrow of certain leukemia patients and absence of Colton antigen from the red cells may now be interpreted as being connected with location on chromosome 7 of the Colton system.
Prenatal diagnosis of dysplastic kidney disease*
Authors: Bartley James A. , Golbus Mitchell S. , Filly Roy A. , Hall Bryan D.
Published: July 2010

Sonolucent areas in the region of the kidneys were demonstrated by ultrasound in a 23‐week‐old fetus. These sonolucent areas persisted and enlarged during the pregnancy and the infant had the Potter phenotype and Potter type 2A dysplastic kidneys at birth. The use of prenatal sonographic evaluation of the fetal kidneys is discussed.
Penetrance and expressivity of the gene responsible for the Gardner syndrome
Authors: Naylor Edwin W. , Gardner Eldon J.
Published: July 2010

The Gardner syndrome is an autosomal dominant condition characterized by multiple polyposis of the colon, associated with various soft‐ and hard‐tissue tumors. Our original kindred, first reported in the early 1950's has been updated and serves as the basis for a discussion of the penetrance and expressivity of the gene responsible for the syndrome. The family consists of 188 members spread over six generations, with 28 individuals clearly documented as having the syndrome. Using two different methods of calculating penetrance, the responsible gene was found to be fully penetrant. This observation was confirmed by an analysis of 160 additional sibships from the literature. This estimation of penetrance is considerably higher than has been previously reported. The expressivity of the gene, however, is quite variable, and this is illustrated using examples from both our kindred and the literature.
Probable dominant inheritance in Blount's disease
Authors: And J. R. Sibert , Bray P. T.
Published: July 2010

A family is described with infantile Blount's disease (tibia vara) following an autosomal dominant mode of inheritance. The bow legs in infancy of family members seem to improve with age, although the literature appears to imply that this is a progressive condition. It is speculated that infantile Blount's disease may be inherited as an autosomal dominant condition with variable penetrance, and that genetic factors have been noted only infrequently, as parents may have improved with age or have been affected only mildly.
Normal rate of sister chromatid exchange in Down syndrome
Authors: Yu C. W. , Borgaonkar D. S.
Published: July 2010

The rate of sister chromatid exchanges per cell in Down synalome patients was not found to be different from that in controls.
Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism
Authors: Ying K. L. , And E. J. Ives , Stephenson O. D.
Published: July 2010

A female patient with a gonodal mucinous cystadenoma on the right side and a gonado‐blastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic, This brings the total number of cases with dicentric Y chromosome reported to date to 23.

Together with the available evidence, the information derived from this case supports the hypothesis that the gene on the long arm of the Y chromosome is responsible for the initiation of testicular differentiation, whereas that on the short arm is responsible for the maturation of the testes.
Somatic segregation and Fanconi anemia
Authors: Berger R. , Bussel A. , Schenhietzler C.
Published: July 2010

A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism.
X‐linked aqueductal stenosis
Authors: Søvik Oddmund , van der Hagen Carl Birger , Løken Hcor Christie
Published: July 2010

A family is reported in which eight members of one generation were affected by the syndrome hydrocephalus with aqueductal stenosis. With the exception of one child who lived for several weeks, they all died at or within 10 days of birth. Autopsy of a pair of affected twins showed marked stenosis of the aqueduct of Sylvius with fusion of the lamina quadrigemina. There were no signs of previous or present inflammatory changes or neo‐plasia. All the affected individuals were males, and the familial and pathological data presented support the concept that aqueductal stenosis in this family was due to an X‐linked gene, and may have a developmental origin.
Aglossia‐adactylia syndrome (special emphasis on the inheritance pattern)
Authors: Tuncbilek Ergul , Yalcin Cengiz , Atasu Metin
Published: July 2010

Three cases, one with aglossia‐adactylia and two with aglossia, are presented, all of whom were born to consanguineous families. Although none of the cases had similarly affected sibs, the possibility of the autosomal recessive mode of inheritance might be taken into account in this syndrome. The dermatoglyphic findings in one previously reported patient showed great similarity to those of one of our cases.
Facio‐cardio‐renal syndrome: a newly delineated recessive disorder
Authors: Eastman John Russell , Bixler David
Published: July 2010

A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.
Interaction of isolated Lp(a) lipoprotein with calcium ions and glycosaminoglycans in vitro
Authors: Ericson C. , Dahlén G. , Berg K.
Published: July 2010

The interaction between the lipoprotein carrying the Lp(a) antigen, i.e. the Lp(a) lipoprotein, and agarose gels substituted with glycosaminoglycans, as well as the precipitation of the Lp(a) lipoprotein by Ca++ were studied. Comparisons between Lp(a) lipoprotein and other serum lipoproteins were conducted.

Very low density lipoprotein (VLDL) and low density lipoprotein (LDL) were bound to the tested glycosaminoglycans at a low ionic strength of sodium chloride, but no binding was found with the Lp(a) lipoprotein. However, Ca++ as a divalent buffer cation gave a precipitating Ca++‐Lp(a) lipoprotein complex even at a physiological Ca++ concentration. VLDL and LDL were not precipitated under these conditions. These findings may be of interest in relation to the previously reported higher frequency of the phenotype Lp(a+) in subjects with coronary heart disease.
Sanfilippo A syndrome in the fetus
Authors: Greenwoods Robert S. , Hillman Richard E. , Alcala Hilda , Sly William S.
Published: July 2010

A family is reported in which Sanfilippo A syndrome affected three siblings: the proband and twin premature infants. The feasibility of intrauterine diagnosis of mucopolysaccharidoses (MPS) Type IIIA, was demonstrated by the excessive accumulation of 35SO4‐ mucopolysaccharides in fibroblasts cultured from amniotic fluid obtained by amniocentesis. Cross‐correction studies and enzymatic analysis of cultured skin fibroblasts from the proband and the infants revealed the absence of the MPS IIIA correction factor, heparan sulfate sulfatase. However, when the premature infants expired shortly after birth, no central nervous system histopathology or ultrastructural abnormalities were found. From these observations it would appear that the third trimester fetus with MPS type IIIA has little CNS involvement.
Detection of Fabry's disease heterozygotes by hair root analysis
Authors: Beaudet Arthur L. , Caskey C. Thomas
Published: July 2010

The α‐galactosidase/β‐hexosaminidase ratio was measured for individual hair roots as a method for heterozygote detection in Fabry's disease. Hair root analysis in control individuals revealed no striking sex difference in α‐galactosidase/β‐hexosaminidase ratio when five males and five females were compared. The values for the ratio × 100, calculating both enzyme activities in nmol of product per min per ×l of hair extract, ranged from 0.8 to 9 for controls and from <0.1 to 0.4 for two hemizygous males. Hair root analysis in four heterozygotes with clinical evidence of disease gave values for each individual in the control range, in the range for hemizygotes and in an intermediate range. The experience using hair root analysis for heterozygote detection in the X‐linked Lesch‐Nyhan syndrome suggests that this approach will be a sensitive heterozygote detection method which takes advantage of the occurrence of hairs with a deficient phenotype on the basis of Lyonization. We observed an affected male who was born to a female without clinical or biochemical evidence (examination included extensive hair root analysis) of Fabry's disease, thus documenting a likely instance of new mutation.
Klinefelter‘ syndrome and trisomy 18 in a newborn boy
Authors: Nielsen J. , Vetner M. , Holm V. , Askjær S. Aa. , Reske‐Nielsen E. , ŽIžka J.
Published: July 2010

A boy with the chromosome constitution 48, XXY, + 18 is presented, together with a review of five previous cases. The finding of a normal testis histology with an average number of spermatogonia in all tubuli is discussed.
Double heterozygosis for hemoglobin C—beta thalassemia: Description of a Spanish family Hemoglobin C—beta thalassemia in a Spanish family
Authors: Casado Angela , Pellicer A. , Olmeda F. , Hors Pilar , Gonzalez‐Sotos M. Asuncion , Carmona M. Soledad , Lopez‐Ferńandez M. Encarnacion
Published: July 2010

A Spanish family is described with two abnormal genes: 1) hemoglobin C in heterozygosis with normal hemoglobin, introduced by the subject's mother, and 2) heterozygotic beta‐thalassemia for which the father is a carrier. In the subject and his sister, both abnormal genes coincide with the presence of hemoglobin C and hemoglobin F, simulating homozygosis for hemoglobin C. The clinical condition shows medium intensity chronic hemolysis. In the subject's brother, mother and grandmother, simple heterozygosis of hemoglobins A‐C is seen, with no apparent clinical manifestations. The father shows subjaundice with some acute hemolytic episodes.
Human chromosome preparations obtained from immunoadsorbent separated T‐ and B‐cells
Authors: Cardillo Mary , Krause Eliot , Sciorra Leonard J.
Published: July 2010

A modification of immunoadsorbent column separation of T‐ and B‐lymphocytes has been used to obtain karyotypable chromosome preparations. This method may be of some use in helping to gain further information about some mosaic conditions or the chromosome complement of appropriate blood disorders.
Phenotypic and genetic analysis of the Silver‐Russell syndrome
Authors: Escobar Victor , Gleiser Sonia , Weaver David D.
Published: July 2010

A family is reported in which two half‐siblings present clinical findings suggestive of the Silver‐Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.
Recessive spondylocostal dysostosis: Two new cases
Authors: Silengo Margherita Cirillo , Cavallaro Sebastiano , Franceschini Piergiorgio
Published: July 2010

Two sisters with spondylocostal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.
Serum IgM in retinitis pigmentosa: A genetic study
Authors: Spiro Roberta , Weleber Richard , Kimberling William
Published: July 2010

Because of a published report that serum immunoglobulin M (IgM) was elevated in some cases of retinitis pigmentosa (RP), a genetic study was undertaken to determine if a particular pattern of inheritance was associated with elevated IgM. Seventy‐five RP patients in 37 families were ascertained and classified by pattern of inheritance into six groups. Serum IgM was quantitated by the radial immunodiffusion technique. Fifty‐one controls were also studied. Methods of adjusting the IgM values for sex, age, and race were derived, but only a sex adjustment was used, since no effect of age on IgM was found in this sample, and there were few data on race. There was no significant difference in mean IgM levels between RP patients and controls. The variance of the RP group was slightly greater than that of the controls. One‐way analysis of variance of the six genetic categories of RP and controls was performed on the raw data and on the data after log transformation. The F‐ratio was not significant, indicating that there was no difference in serum IgM levels among the seven groups. Possible reasons for the discrepancy in results between this study and the previous report are presented.
β‐galactosidase deficiency: Prolonged survival in three patients following early central nervous system deterioration
Authors: Stevenson Roger E. , Taylor Harold A. , Parks Stephen E.
Published: July 2010

Three adult patients from two families have shown slowly progressive neurologic deterioration since the age of 3 years, associated with profound β‐galactosidase deficiency. Although affected individuals from the two different families differ in degree of intellectual deficit, facial coarseness and spondyloepiphyseal dysplasia, all lack visceromegaly and macular red spots. The diversity of phenotypic expression in these patients and others previously reported suggests the existence of composite genotypes (compound and double heterozygosity).
Familial reinclusion of permanent molars
Authors: Bosker H. , Kate L. P. Ten , Nijenhuis L. E.
Published: July 2010

Reinclusion of permanent molars was found in 55 individuals from 9 families. Inheritance is clearly autosomal dominant with complete penetrance. The provisional assignment of its gene locus to the same linkage group as the gene locus of blood group P (Bosker & Nijenhuis 1975) could not be confirmed.
Genetic control of human plasma creatine phosphokinase activity
Authors: Meltzer H. Y. , Dorus E. , Grunhaus L. , Davis J. M. , Belmaker R.
Published: July 2010

Plasma creatine phosphokinase (CPK) activity was determined in 14 monozygotic (MZ) and 14 dizygotic (DZ) twin pairs. The heritability indexes calculated for plasma CPK activity indicated support for the hypothesis that plasma CPK activity is under some genetic control. This finding is discussed in relation to various diseases in which plasma CPK activity is increased.
Pathologic diagnosis of Duchenne muscular dystrophy in an aborted fetus
Authors: Winn Kevin J. , Heller Richard H.
Published: July 2010

In a fetus at risk for Duchenne muscular dystrophy and aborted at 21 weeks, an increase in variability in muscle fiber diameter was found in comparison to two control fetuses.
Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring
Authors: Hansteen I. L. , Schirmer L. , Hestetun S.
Published: July 2010

Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both trisomic for 12p(ter→12.1) and monosomic for 21p. Their mother (No. 5), the maternal grandmother (No. 7), aunt (No. 8), and a first‐cousin (No. 9) were balanced translocation carriers, 46 rcp (12;21) (p12.1;p11). Another cousin (No. 10) had Down syndrome: he had two normal 21 chromosomes in addition to both translocation chromosomes. A sister (No. 2), who died at the age of 1 year without being karyotyped, had several phenotypical features in common with her brothers.

Our two cases of trisomy 12p (ter→12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low‐set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; “spade”‐shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. An elevated serum lactate dehydrogenase (LDH) was measured in four cases.
Familial aplasia or hypoplasia of the patella
Authors: Braun H.‐St.
Published: July 2010

A father with bilateral absence of the patella and his son with pronounced hypoplasia of the patellae are described. A possible relationship between this syndrome and hereditary osteo‐onycho‐dysplasia is discussed.
Caudal regression anomalad (sacral agenesis) in siblings
Authors: Finer Neil N. , Bowen Peter , Dunbar Lawrence G.
Published: July 2010

Hypoplasia of the caudal end of the spine and associated anomalies were observed in two male siblings who also had congenital heart disease. The disorder has overlapping features with the VATER association and the caudal regression anomalad, and probably has a genetic basis, although the mode of inheritance is not clear.
Dermatoglyphic and radiographic findings in a mother and daughter with pseudohypoparathyroidism
Authors: White Beverly J. , Marx Stephen J.
Published: July 2010

The dermatoglyphic features of a mother and daughter with pseudohypoparathyroidism were compared with those of 19 other reported PHP cases and with findings typical of 45, X Turner syndrome. Our observations included large patterns with a predominance of whorls, unusual accidental patterns on the third fingers, elevated total and absolute finger ridge counts, extralimital digital triradii, intermediately placed axial triradii, and a single complete transverse palmar crease. With barium‐coated hand radiographs, the positions of the palmar digital triradii were compared with those of the underlying metacarpal and carpal bones. Normally, the fourth digital triradii (c) are superficial to the epiphyseal region of the proximal phalanx, near the fourth M‐P joint. In our cases, the c triradii were distal to the M‐P joint, adjacent to the diaphysis of the proximal phalanx. These findings, related to post‐natal differences in growth potential of osseous structures and overlying dermal ridge tissues in this disease, may also be relevant to other syndromes with abnormal development of the hand. The need for further delineation of PHP dermatoglyphics and comparison of findings with data from Turner syndrome and normals is stressed.
Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia
Authors: Thomas George H. , Tipton Robert E. , Ch'ien Lawrence T. , Reynolds Linda W. , Miller Carol S.
Published: July 2010

A 31‐year‐old male is described who has macular cherry‐red spots, increased deep tendon reflexes and myoclonus without dementia. An older brother died at age 33 of a disease with similar symptomatology.

Homogenates of cultured fibroblasts from the patient exhibited 2.6, 8.1 and 12.4 % of normal mean sialidase (neuraminidase, N‐acetyl‐neuraminosyl glycohydrolase, EC 3.21.18) activity, respectively, against 2‐(3'methoxyphenyl)‐N‐acetyl‐α‐neuraminic acid, N‐acetyl‐neuramin‐lactose and fetuin. Activities of 14 other lysosomal enzymes were within the range of normal control fibroblasts.

The sialidase activities in fibroblasts from the patient's parents and children were 30 to 67 % of normal. It is concluded that this is the first proven case of a new autosomal recessive disorder resulting in cherry‐red spots, myoclonus and a sialidase deficiency.
Genetic epidemiology of an institutionalized cohort of mental retardates
Authors: Morton N. E. , Matsuura Janice , Bart R. , Lew R.
Published: July 2010

By criterion scaling and principal component analysis of performance, social class, symptoms, institutionalization, and medical history, a cohort of mental defectives has been divided into medical, biological, and sociofamilial categories. This division, corresponding to differences in etiology and severity, reveals changing patterns of admission and provides evidence that male excess is not primarily due to sex linkage. The incidence of mental retardation increases about 5 % with first‐cousin marriage, in agreement with other studies. The decline of IQ with inbreeding appears to be due entirely to rare recessive genes, not to dominance deviations of polygenes.
Ichthyosis vulgaris showing features of the autosomal dominant and the X‐linked recessive variants in the same family*
Authors: Mevorah B. , Frenk E. , Pescia G.
Published: July 2010

A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Pheno‐typically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X‐linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X‐linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.
Familial occurrence of lumbar spondylolysis and spondylolisthesis
Authors: Haukipuro K. , Keränen N. , Koivisto E. , Lindholm R. , Norio R. , Punto L.
Published: July 2010

In a Finnish kindred consisting of 192 descendants from two marriages of a male ancestor born in 1868, the lumbar spines of 105 of the 170 living members were X‐rayed. Spondylolysis was found in 22 individuals. In addition, six of them had spondylolisthesis, four had spina bifida occulta, and two had a transitional lumbar/sacral vertebra. Seven members of the kindred without spondylolysis had spina bifida occulta and 10 had transitional lumbar vertebrae.

The pedigree is consistent with autosomal dominant inheritance and incomplete (about 75 %) penetrance for spondylolysis. It raises the question of a common aetiology for several congenital disturbances in the formation of lumbar vertebrae and possibly supports the concept of a variable expressivity of a “spondylolysis gene”.
Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21‐trisomic child
Authors: Gustavson K.‐H. , Kjessler B. , Thorén S.
Published: July 2010

Prenatal chromosome analysis revealed that a 34‐year‐old, gravida 2 mother was pregnant with an XXY foetus. She had previously given birth to a 21‐trisomic boy with another spouse.

Both parental karyotypes were normal, but a high frequency of associations between satellited chromosomes was observed in maternal lymphocytes. The possibility that increased satellite associations may predispose to aneuploidy in the offspring is discussed.

The finding of normal testicular histology in the aborted XXY foetus provides evidence that the characteristic XXY testicular dysgenetic lesions are likely to occur not earlier than in the late prenatal period.
2:2 and 3:1 Meiotic disjunctions in a carrier of a reciprocal 10/14 translocation
Authors: Scheres J. M. J. C. , Hustinx Th. W. J. , Haar B. G. A. ter , Rutten F. J. , Mee‐Wienen H. H. A. M van der
Published: July 2010

The offspring of a female with a reciprocal whole‐arm translocation between a chromosome No. 10 and a chromosome No. 14 is described. She gave birth to three cytogenetically different children: one with a normal, one with an abnormal but balanced, and one with an unbalanced karyotype. In these three cases, 2:2 disjunctions must have occurred during maternal meiosis. She also had a trisomy 14 abortion, which is assumed to have been caused by a 3:1 meiotic disjunction.
The cerebro‐oculo‐facio‐skeletal syndrome
Authors: B.Surana Rawatmal , Fraga Juan R. , Sinkford Stanley M.
Published: July 2010

A black infant with classical features of cerebro‐oculo‐facio‐skeletal (COFS) syndrome is reported. At autopsy the patient was also found to have partial agenesis of the corpus callosum and a missing left ovary.
Camptomelic dwarfism associated with XY‐gonadal dysgenesis and chromosome anomalies
Authors: Hoefnagel D. , Wurster‐Hill D. H. , Dupree W. B. , Benirschke K. , Fuld G. L.
Published: July 2010

We have studied two female newborns with camptomelic dwarfism, XY‐gonadal dysgenesis and chromosome anomalies. The preponderance of “females” among the hitherto reported cases of this allegedly autosomal recessive form of lethal dwarfism may be due to an increased incidence of an associated XY‐gonadal dysgenesis.
Incomplete prenatal diagnosis of G‐trisomy mosaicism
Authors: Simola Kalle , Aula Pertti , Ryynänen Markku , Koskull Harriet von
Published: July 2010

Chromosomal mosaicism is difficult to detect in prenatal diagnosis, and it seems even more difficult to predict its significance correctly. We present a case, in which G‐trisomy mosaicism was diagnosed prenatally but was not verified in the aborted fetus. A practical approach to suspected fetal mosaicism in prenatal diagnosis is proposed.
Pompe's disease: Diagnosis in kidney and leucocytes using 4‐methylumbelliferyl‐α‐D‐glucopyranoside
Authors: Broadhead D. M. , Butterworth J.
Published: July 2010

The diagnosis of Pompe's disease by the assay of acid α‐glucosidase in kidney and leucocytes was not previously possible because of the presence of another component which had activity at pH 4.0, but was not deficient in the disease. This problem was resolved either by the use of the inhibitors, turanose, maltose and citrate, or by isoelectric precipitation at pH 5.0, which enabled the estimation of acid α‐glucosidase in kidney and leucocytes.
Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl
Authors: Kjessler B. , Gustavson K.‐H. , Wigertz A.
Published: July 2010

A girl, who was the product of the first recognized conception by healthy and chromosomally normal parents, and who was born 5 weeks before term with a birth weight of only 1,690 g, was found to have a ring‐1 chromosome, r(1), in almost all cells analysed. A minor proportion of cells had a normal diploid chromosome complement including two regular No. 1 homologues. A few cells contained a large dicentric ring, and two monocentric ring‐1 chromosomes were simultaneously observed in a few other cells. Q‐ and G‐banding revealed the r(1) chromosome to be apparently non‐deleted. The patient phenotypically resembled the three previously described human subjects with r(1) chromosomes, especially with respect to her remarkable growth failure and mental retardation.

From consideration of data available on general development in subjects with an autosomal ring chromosome, it appears likely that the presence of such a ring chromosome per se in an early foetal chromosome complement may predispose to significantly retarded intrauterine and postnatal growth. Various genetical implications, including mitotic irregularities with subsequent loss of cells at division, are thought to account for the significant reduction of body mass in these patients.
Atypical expression of ß‐galactosidase deficiency in a child with Hurler‐like features but without neurological abnormalities
Authors: Andria Generoso , Giudice Ennio Del , Reuser Arnold J. J.
Published: July 2010

A 28‐month‐old child was found to have several clinical features of lysosomal storage diseases, including: coarse facies, hepatosplenomegaly, lumbar kyphosis due to hypoplastic beaked L1 and L2 vertebral bodies, vacuolated lymphocytes in blood smears and rare foamy hystiocytes in bone marrow. However, no signs of neurological or ocular abnormalities were detected. A β‐galactosidase deficiency was demonstrated in leukocytes and cultured skin fibroblasts, with a residual activity toward 4‐methylumbelliferyl‐β‐galactopyranoside ranging between 5 and 15% of the normal mean. Normal activities were found for several other lysosomal acid hydrolases. β‐galactosidase activities in leukocytes and cultured skin fibroblasts from both parents were within the normal ranges. The patient seems to represent an atypical expression of acid β‐galactosidase deficiency, since his clinical picture does not exactly correspond to that of either the two classical types of GM1‐gangliosidosis or other atypical patients reported in the literature having β‐galactosidase deficiency.
The Dyggve – Melchior – Clausen syndrome in adult siblings
Authors: Bonafede R. P. , Beighton P.
Published: July 2010

The clinical and radiographic features of three adult siblings with mental deficiency and dwarfism due to the Dyggve‐Melchior‐Clausen syndrome are documented. The consanguinity of the unaffected parents is further evidence to support the concept of autosomal recessive inheritance of this disorder. The fact that this is the fifth reported kindred of Lebanese extraction emphasises the geographic predilection of the abnormal genes.
H ‐ Y antigen in human intersexuality
Authors: Ghosh S. N. , Shah P. N. , Gharpure H. M. , Athreya Usha
Published: July 2010

The status of H‐Y antigen was studied in 10 intersexual cases (three pure gonadal dysgenesis with XY genotype, three Klinefelter's syndrome, two true hermaphroditism with XX genotype, two male hermaphroditism) and in 18 normal adult subjects (nine males and nine females). In all these subjects, fluorescent staining and G‐banding on chromosomes from cultured leukocytes confirmed their karyotype. Interestingly, H‐Y antigen was found to be negative in XY females with dysgenetic gonads (PGD), while in the remaining intersexual states (viz Klinefelter's syndrome, true hermaphroditism and male hermaphroditism), it was found to be positive. These observations confirm that morphological differentiation of testis is controlled by H‐Y antigen, and indicate that in the absence of the H‐Y antigen, the gonad in pure gonadal dysgenetic patients (46, XY) could not be differentiated into testis. Further, it appears that H‐Y antigen in no way influences the secretory function of testis.
In vitro studies of the interaction of isolated Lp(a) lipoprotein and other serum lipoproteins with glycosaminoglycans
Authors: Dahlén G. , Ericson C. , Berg K.
Published: July 2010

The interaction of isolated Lp(a) lipoprotein or other lipoprotein classes with different glycosaminoglycans (GAG) bound to activated Sepharose was studied. In contrast to LDL, the Lp(a) lipoprotein did not bind to the GAG tested if sodium was used as a buffer cation. In the presence of Ca++, however, even the Lp(a) lipoprotein was bound to GAG. This type of binding, probably mediated by divalent cation bridges, is apparently not a simple function of the GAG used. Addition of GAG in solution revealed that this binding, as well as the binding in the absence of Ca++, is reversible. The Ca++ mediated binding may be the only one existing under physiological conditions, and it appears possible that the Lp(a) lipoprotein is bound more firmly to GAG than is LDL under such conditions.
Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to risk
Authors: Bird Thomas D. , Kraft George H.
Published: July 2010

One hundred and nine individuals from complete sibships at risk for autosomal dominant Charcot‐Marie‐Tooth (CMT) disease in 15 unrelated families were evaluated by physical examination and motor nerve conduction studies. Penetrance of the gene was 28% in the first decade, but was essentially complete by the middle of the third decade. The average age of onset of symptoms was 12.2 y, with a standard deviation of 7.3. Persons at risk who have no clinical manifestations and who are over age 27 have less than a 3% probability of having inherited the CMT gene.
Biochemical investigations in cultured skin fibroblasts from patients with Duchenne muscular dystrophy
Authors: Pena S. D. J. , Vust A. , Tucker D. , Hamerton J. L. , Wrogemann K.
Published: July 2010

Cultured skin fibroblasts from patients with Duchenne muscular dystrophy were studied with a double‐labeling procedure. Preliminary evaluation of the growth characteristics and average viability of dystrophic cells did not show any major abnormalities. Analysis of doubly labeled fibroblast mixture did not disclose any consistent anomaly in the distribution of subcellular fractions or in the major protein components of dystrophic fibroblasts.
The cherry red spot—myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency
Authors: O'Brien John S.
Published: July 2010

A newly discovered lysosomal storage disorder, apparently transmitted as an autosomal recessive trait, presents with cherry red spots in childhood, progressive debilitating myoclonus, insidious visual loss, and normal intelligence. Somatic and bony abnormalities are not evident clinically. Neuronal lipidosis and vacuolated Kuppfer cells are found upon tissue examination. The diagnosis can be most easily confirmed by chromatographic screening for urinary sialyloligosaccharides. The primary enzyme defect is a deficiency of an acid neuraminidase isoenzyme which cleaves sialyloligosaccharides. I discuss here the clinical phenotype in four patients, the chemical abnormality, the pathogenesis, the enzyme defect and the molecular genetics of this disorder.
A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics
Authors: Sack George H.
Published: July 2010

A father and daughter with arthrogryposis multiplex congenita and similar dermatoglyphic patterns are described. No evidence was found of chromosomal abnormality, neuropathy or myopathy, and there were no other affected family members. The findings are compatible with autosomal dominant inheritance.
ABO and Rh phenotyping of foetal blood obtained by foetoscopy
Authors: Philip John , Brandt Niels Jacob , Fernandes Alvito , Freiesleben Erik , Trolle Dyre
Published: July 2010

Blood samples taken from the foetus by foetoscopy early in the 2nd trimester of pregnancy can be used for reliable blood grouping. However, the sampling technique is not perfect. In 5 out of 15 pregnant women, no foetal blood was obtained, although between 1 and 10 samples were taken on each occasion. One‐third of 56 samples from the 10 women contained foetal blood.

Contamination of samples with amniotic fluid varied, but did not interfere with the blood grouping. ABO and Rh typing of the foetus was possible even if the samples were contaminated with large amounts of maternal blood.

In nine cases, blood grouping of the foetus was performed on red cells from foetoscopy samples. Control blood samples from the foetus following abortion were obtained in seven of these cases, and the foetoscopic results were confirmed.
The dermatoglyphic pattern of the trisomy 10p syndrome
Authors: Rodewald A. , Stengel‐Rutkowski S.
Published: July 2010

Dermatoglyphic findings are reported for six members of a family in which two patients have partial trisomy for the short arm of chromosome 10(p13→pter) and there are two unaffected carriers of the balanced translocation t(5;10)(p15;p13). The patterns are compared with those of nine other published cases of trisomy 10p. The following dermatoglyphic features appear to be characteristic for the trisomy 10p syndrome: frequent whorls and a high total ridge count on the finger prints and on the palms, C‐lines terminating in space 11 (2nd interdigitum), B‐lines terminating in space 9 (3rd interdigitum), axial triradii t“, high atd angles, abnormal creases on the palms and soles, and general dysplasia of the papillary ridges.
Renal dysplasia and asplenia in two sibs
Authors: Crawfurd M. d‘A.
Published: July 2010

A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver.

This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner.
Cri‐du‐chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin
Authors: Gebauer H. J. , Stumpf B. , Hansmann I. , Grimm T.
Published: July 2010

A child is described with most of the typical clinical features of the cri‐du‐chat syndrome. G‐ and C‐banding studies revealed the karyotype 45,XX, ‐5, ‐15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation chromosome. However, no silver precipitation after AgNO3‐staining was observed on the translocation chromosome, thus indicating a loss or genetic inactivation of the NOR‐region of the translocated No. 15. These cytogenetic results and their possible relationship to the cri‐du‐chat phenotype are discussed.
Polymorphism of apolipoprotein E
Authors: Utermann G. , Albrecht G. , Steinmetz A.
Published: July 2010

Two methods for phenotyping apolipiprotein E are compared. One is based on preparation of VLDL by conventional ultracentrifugation, whereas the other uses heparin/Mg precipitation of VLDL. In principle, the same results were obtained by both methods. However, the group limits for the three different phenotypes Apo E‐N, Apo E‐ND and Apo E‐D were slightly different by the two methods.

Phenotype Apo E‐D ‐ the phenotype characterizing type III dyslipoproteinemia ‐ is clearly definable by both methods. Hence the precipitation‐I.E.F. method for Apo E phenotyping provides a simple tool for genetic and population genetic studies and also for the routine diagnosis of hyperlipoproteinemia type III, based on the only specific marker known for this disease.
Use of microtechniques for the detection of lysosomal enzyme disorders: Tay‐Sachs disease, Gm1‐gangliosidosis and Fabry disease
Authors: Bladon Mariluci T. , Milunsky Aubrey
Published: July 2010

A preliminary report on the use of microtechniques for the detection of three lysosomal storage diseases (Tay‐Sachs, GM1‐gangliosidosis and Fabry disease) is presented. This micro‐assay method uses from 100 to 300 cultured amniotic fluid cells or skin fibroblasts. A comparison between values for total activity and heat inactivated forms of hexosaminidase (in Tay‐Sachs disease) is presented. The feasibility of the use of this microtechnique in prenatal diagnosis is discussed.
Ketotic hypoglycemia in the Penta X and other chromosome imbalance syndromes
Authors: Moedjono Sri , Sly William S. , Mauldin Lawrence B. , Haymond Morey
Published: July 2010

A case is reported of a girl with Penta‐X syndrome who developed ketotic hypoglycemia.
Urinary tract malformation in the XYY male
Authors: Machin G. A.
Published: July 2010

Phenotypic expression of the 47,XYY chromosome complement in man has been investigated mostly in terms of the central nervous system. Evidence is presented here to suggest that urinary tract malformation may be a component of the XYY syndrome; this should be taken into account when counselling parents of children with this chromosome anomaly, and in making decisions when an affected foetus is diagnosed antenatally.
Schizophrenia in a North Swedish geographical isolate, 1900–1977. Epidemiology, genetics and biochemistry
Authors: Böök J. A. , Wetterberg L. , Modrzewska K.
Published: July 2010

Over 200 schizophrenic patients belonging to three major and interrelated pedigree complexes have been investigated over the past 30 years in a North Swedish geographically isolated population, presently numbering about 6,000. An intensive investigation of a number of biochemical correlates and genetic markers in a few selected families belonging to one of the major pedigrees has indicated new strategies for the current research program.

Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine‐β‐hydroxylase, and (3) with the genetic marker Gc2(group specific antigen). Both enzymes are subject to genetic variation. A positive score for linkage between schizophrenia and low plasma DBH activity has been calculated, but, so far, available data are insufficient for discrimination between linkage and partial contribution of genetically controlled low plasma DBH to the pathogenesis of the disease. Alternatively, both mechanisms could be involved.

As a model for continued research, schizophrenia is explained as based on a double dominant‐recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO‐ and DBH‐reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population.
Expression of “adult” polycystic renal disease in the fetus and newborn
Authors: Shokeir M. H. K.
Published: July 2010

The manifestations of “adult” polycystic disease of the kidneys are reported in fetal life and during infancy. At the time of diagnosis, the patients in whom the disorder was detected were a stillborn fetus, a liveborn baby immediately after birth, a neonate at 3 weeks of age, and three infants between 2½ and 4 months of life. In all six cases, who were unrelated, similar implication of other family members was elicited, and in four, parental disease was documented. As expected, the disorder in these families was transmitted in an autosomal dominant fashion. Apart from the youngsters reported here, all the other known patients in the respective families were of adult age.

The disease was fatal in all of our patients, with death ensuing (except, of course, in the stillbirth) from hours to weeks after the diagnosis.

This report underlines the variability in the age of expression and the mode of presentation of “adult” polycystic kidney disease.
Cluster of cystic fibrosis cases in a limited area of Brittany (France)
Authors: Bois E. , Feingold J. , Demenais F. , Runavot Y. , Jehanne M. , Toudic L.
Published: July 2010

Cystic fibrosis in the northern sector of the French “département” of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic analysis, going back to the beginning of the 18th century, showed a relationship between 8 of the 10 families to which the patients belonged. The origin of the deleterious genes may be explained by at least five primary ancestral couples living in the 18th century. Random drift is the most probable explanation for the concentration of cystic fibrosis in this region.
Microtia and meatal atresia in mother and son
Authors: Guizar‐Vázquez J. , Arredondo‐Vega F. , Rostenberg I. , Manzano C. , Armendares S.
Published: July 2010

The present paper describes a family in which a mother and son are affected with microtia and meatal atresia. The pedigree suggests autosomal dominant inheritance.
46,XY pure gonadal dysgenesis with non‐fluorescent Y chromosome
Authors: Gaál M. , László J. , Bósze P.
Published: July 2010

A 46,XY karyotype with a non‐fluorescent Y chromosome was found in an infantile girl aged 16 with primary amenorrhea. Identification of the Y chromosome was made by different staining techniques and a photometric scanning method. The histology of the streak gonad also indicated the Y character of the chromosome. The authors' interpretation is a 46,XY pure gonadal dysgenesis with a non‐fluorescent Y chromosome.
Trisomy 8 mosaicism syndrome. Report of monozygotic twins
Authors: Reyes Pilar G. , Hsu Lillian Y. F. , Strauss Lotte , Rose Judith , Hirschhorn Kurt
Published: July 2010

Monozygotic twins were born with the phenotypical appearance of the trisomy 8 syndrome. The first twin, a stillborn, had autopsy findings suggestive of trisomy 8 syndrome. Cultured lymphocytes and skin fibroblasts of the second, liveborn twin, showed trisomy 8. While the lymphocyte culture showed 46/47,+8 mosaicism, with normal cells predominating, skin fibroblasts yielded only cells with trisomy 8. Bone marrow preparation showed only normal cells, 46,XY. Repeat lymphocyte culture at age 14 months, showed a reduced number of trisomy 8 cells. We would like to emphasize the importance of cytogenetic studies in early infancy, using both peripheral lymphocyte and skin fibroblast cultures, to increase the chance of detecting chromosomal abnormalities.