bluuebunny/crossref_metadata_2025 huggingface dataset:
The effect of structural aberrations of the chromosomes on reproductive fitness in man
Authors: Jacobs Patricia A. , Frackiewicz Anna , Law Pamela , Hilditch C. Judith , Morton Newton E.
Published: July 2010

Reproductive fitness was measured in the following seven classes of pedigrees: (1) D/D Robertsonian translocations ascertained through a euploid proband; (2) D/G Robertsonian translocations ascertained through a euploid proband; (3) reciprocal translocations ascertained through a euploid proband; (4) inversions ascertained through a euploid proband; (5) all translocations and inversions ascertained through an aneuploid proband; (6) those ascertained through a proband with a ring, marker, or supernumerary chromosome; (7) those ascertained through a proband with an extreme variant chromosome. For each group reproductive fitness was calculated in two ways. One method was based on live births, fetal and infant deaths and generation time of those individuals carrying a chromosome abnormality or variant by comparison with their first degree relatives who were known to have a normal chromosome constitution. The second method was based on the proportion of sporadic cases obtained from segregation analysis. The results obtained using both methods are presented and discussed.
Detection of inborn errors of metabolism. IV. Galactokinase deficiency
Authors: Hill Helene Z.
Published: July 2010

Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA‐insoluble material under normal conditions of incubation while both galactosemic and normal cells incorporate considerable amounts. The importance of this is discussed in relationship to antenatal screening.
The 9p trisomy syndrome: Two further cases arising from different familial translocations
Authors: Mulcahy Marie T. , Jenkyn Joy
Published: July 2010

The clinical, cytogenetic and dermatoglyphic findings in two unrelated cases of trisomy for the short arms of the No. 9 chromosome are described. Different familial translocations were involved in each case.
The oro‐facial‐digital syndrome
Authors: Whelan D. T. , Feldman W. , Dost I.
Published: July 2010

Two patients, a mother and her daughter, are presented who manifest the clinical features of the oro‐facial‐digital syndrome (OFD I), Many of these features are shared with Mohr's syndrome (OFD 11). Confusion arises when a patient presents with features common to both syndromes.

The features which are always or sometimes associated with these syndromes are tabulated. The Tables also show which abnormalities are common to both syndromes and to our cases. Additional clinical and radiological features which have not been considered part of these syndromes are described. We present these cases to suggest that these syndromes should be “lumped” together as one syndrome. We propose expanding this syndrome to include ear and renal abnormalities.

Our cases follow an X‐linked dominant inheritance pattern and, therefore, do not help determine the genetic controversy of these two syndromes.
A girl with 46, XX, t(1;15) karyotype. Cytogenetic and clinical observations
Authors: Hemel J. O. VAN , Biervliet J. P. VAN , GRIFT P. W. DE Jager‐van DER
Published: July 2010

Results are presented of karyotype analysis with autoradiography and Q‐banding of a mentally retarded dwarf. A reciprocal (1p ‐;15q+), de‐novo translocation was observed.
A cytogenetic survey of 14,069 newborn infants
Authors: Hamerton J. L. , Canning N. , Ray M. , Smith S.
Published: July 2010

Data from a chromosome examination of 14,069 consecutive newborn infants is presented. Successful karyotypes were obtained on 13,939 babies using short‐term blood culture and conventional staining methods. Of those, 13,645 babies had normal chromosomes; 64 (0.46%) had a major chromosome abnormality; and 230 (1.65%) had a marker chromosome; giving a total of 294 (2.11%) babies with a major chromosome abnormality or distinctive marker chromosomes.

Six male babies with sex chromosome abnormalities had a 47, XXY and four a 47, XYY karyotype, and three were mixoploids. Five female babies had a 47, XXX karyotype and two were mixoploids. There were three babies with ambiguous external genitalia, all with normal karyotypes. Fourteen babies had 21‐trisomy; there were three 18‐trisomics and one 13‐trisomic. The mother of one 18‐trisomy baby had a balanced (18;21) translocation. Twenty‐four infants had a balanced chromosome rearrangement. Eleven of these were reciprocal and thirteen were Robertsonian translocations. One baby had an unbalanced derivative chromosome resulting from an 18;ll insertion. Two infants with additional unidentified fragments were detected.

Two hundred and thirty babies (1:60) carrying distinctive chromosome variants were detected. The commonest variant was the Yq+ among males (0.89%). Other common variants involved the short arms of the D and G groups (0.32% and 0.57%, respectively) 16q+ (0.09%), and 1q+ (0.04%).

The results of the present study when combined with five other comparable studies, thus comprising a total of 46,150 newborn infants, indicates that the frequency of major chromosome abnormalities is between 1:150 and 1:200 live‐born babies. This represents a small proportion of all conceptuses with chromosome abnormalities, which has been estimated as being approximately 1:20.

It is thus clear that chromosome abnormalities form a major part of the genetic load carried by the human population. The development of chromosome banding techniques already has increased, and will further increase, the complexities of human cytogenetics and may reveal many additional rearrangements undetectable by conventional methods.
Prenatal diagnosis and family studies in a case of propionicacidaemia
Authors: Gompertz David , Goodey Patricia A. , Thom Hazel , Russell George , Johnston Alan W. , Mellor David H. , MacLean Murdoch W. , Ferguson‐Smith Marie E. , Ferguson‐Smith Malcolm A.
Published: July 2010

In a family with a history of two neonatal deaths, propionicacidaemia was diagnosed retrospectively from stored plasma as the cause of the second death during the mother's next pregnancy. Amniocentesis was performed and a culture of amniotic cells was assayed for propionyl CoA carboxylase activity. The absence of any detectable propionyl CoA carboxylase activity allowed the prenatal diagnosis of propionicacidaemia to be made. Treatment with biotin and a modified aminoacid diet was started in the immediate postnatal period. Investigation of propionyl CoA carboxylase in leucocytes from the parents, siblings and other relations of the patient failed to demonstrate intermediate enzyme activities in even the parents, who were presumably heterozygotes for this condition.
Moral and ethical problems of pre‐natal diagnosis
Authors: Fletcher John
Published: July 2010

The moral and ethical problems resulting from application of pre‐natal diagnosis are identified: abortion, questions about euthanasia for defective newborns, and the concept of genetic health. A holistic approach to ethical problems is presented that includes attention to both principles and consequences.
Retinoblastoma ‐ a clinical survey and its genetic implications
Authors: Aherne G. E. S. , Roberts D. F.
Published: July 2010

A clinical, pathological and genetic study was made of 50 patients with retinoblastoma in the Newcastle Hospital region over the period 1931–1970 inclusive. Twenty‐seven patients were affected in one eye only; 23 had bilateral tumours. The incidence of the tumour was approximately 1:16,000 live births. Bilateral cases tended to present at a younger age, and were more likely to be familial. In bilateral cases the tumour in the second eye was often detected at an early stage by ophthalmoscopy. In a quarter of the cases there was a considerable interval (up to 10 years) before the second eye was found to be affected. A surprisingly large proportion of eyes with clinically advanced tumour proved to have the tumour histologically confined to the retina. This disparity between clinical and pathological severity emphasises the justifiability of conservative treatnicnt in the first instance in many cases. Twelve of the 50 patients developed a new tumour, local spread, or reactivation of a treated tumour, over a period ranging from 2 months to 10 years after primary treatment. This finding emphasizes the importance of frequent follow‐up of all cases. Follow‐up should include the patient's siblings and offspring, even in apparently “sporadic” cases. The survival rate was 84%. A supplementary scheme of inheritance of liabity to develop retinoblastoma is suggested.
Length of Y chromosome and activity in boys
Authors: Nielsen Johannes , Nordland Eva
Published: July 2010

In a cytogenetic‐psychological study of 47 school boys in special classes and 48 controls in normal classes in a Danish city no significant difference was found between the mean Y length. There were, however, four boys with enlarged Y among the 47 in special classes, compared with one of the 48 in the normal classes.

We found a significant correlation between length of Y and level of activity with increase of level of activity correlated with increase of length of Y when both groups were taken together (P < 0.005). The mean activity score was 6.5 for the boys with Y/F 5 0.83, compared with 8.1 for those with Y/F 0.95 (P < 0.005).

If the milieu is restrictive with poor understanding and support for the needs of a boy, a comparatively large Y with associated high level of activity might intensify the problems of such a boy. If the milieu is positive, understanding, permissive and with possibilities of channeling activity, the large Y associated with a high level of activity might be a positive factor in personality development and social adjustment. The present study shows certain tendencies confirming this.
Amniotic fluid alpha2‐macroglobulin and the antenatal diagnosis of spina bifida and anencephaly
Authors: Brock D. J. H.
Published: July 2010

Alpha2‐macroglobulin (AMG) concentrations have been measured in amniotic fluids from 33 pregnancies where the outcome was an infant with a neural tube defect. AMG ranged from 1.3 to 50 μg/ml in these samples, but was undetectable (< 1 μg/ml) in matched controls. Since the abnormal samples included four cases of spina bifida and eight cases of anencephaly before 22 weeks of pregnancy, measurement of AMG concentrations may be useful in the early antenatal diagnosis of neural tube defects. In some cases it gave clearer results than those obtained by measurement of amniotic fluid alphafetoprotein. However, care must be exercised to ensure that amniotic fluids are not contaminated by blood.
Molecular genetics of GM1β‐galactosidase
Authors: O'Brien John S.
Published: July 2010

The molecular genetics of GM1β‐galactosidase is reviewed. This enzyme exists in two forms, A and B. Form A is monomeric with a molecular weight of 72,000 and appears to be coded by a single autosomal locus. Form B is polymeric and cross‐reacts with anti‐A antibodies; it is coded wholly or in part by the same locus that codes for A. The simultaneous loss of A and B in GM1 gangliosidosis is explained. None of the other β‐galactosidases, including neutral β‐galactosidase, ceramide lactoside β‐galactosidase or cerebroside β‐galactosidase cross‐react with anti‐A antibodies, demonstrating that they are coded by loci separate from A. GM1, β‐galactosidase A is heterocatalytic, cleaving β‐Dgalactose from ganglioside GM1, lactose, N‐acetyllactosamine, and galactose‐containing glycoproteins such as asialofetuin, red cell stromal glycoproteins and keratan sulfate. The pleotropic effects of a single mutation affecting the locus for β‐galactosidase A can be explained by a one gene: one polypeptide: many substrates model. Phenotypic variability among β‐galactosidase A mutants may result from better residual activity of the mutant enzyme for one substrate than for another. Patients with normal intelligence and severe bony deformities, who are homozygous for a mutation affecting the enzyme, illustrate this point. Thus far all human mutants for GM1, β‐galactosidase studied are structural mutants, synthesizing nearly normal quantities of mutant enzyme; one is a proven Km mutant, the others are very likely so.
Influence of the myopia gene on brain development
Authors: Karlsson Jon L.
Published: July 2010

Evaluation of the performance of 17–18‐year‐old high school students on standard intelligence tests confirms previous reports that nearsighted persons consistently achieve scores approximately eight I.O. points higher than non‐myopes. Comparison of tests administered to the same students 10 years earlier suggests that the intellectual gain precedes the development of nearsightedness. Since there is convincing evidence from genetic studies that myopia is an inherited condition, probably transmitted as a recessive characteristic, it is concluded that the myopia gene has a stimulant action on the brain in addition to its effect on the eye. The high frequency of myopia in urbanized societies is explained in terms of an evolutionary adjustment, myopes probably having a survival advantage under conditions of industrialization.
Satellite association: Giemsa banding studies in parents of Down's syndrome patients*
Authors: Taysi Kutay
Published: July 2010

Association patterns of acrocentric chromosomes in 3032 cells from chromosomally normal parents of regular mongols (nondisjunctional trisomy 21) and normal controls were studied by the Giemsa banding technique. In each group, chromosome No. 21 was found to be involved in satellite association more frequently than other acrocentric chromosomes. The most frequently seen association was between No. 21 and 22. However, no difference was shown between the parental test group and the normal controls in regard to these frequencies.

These results render less tenable the proposed linkage between satellite association and the etiology of mongolism.
Two cases of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) associated with hGH deficiency and marginal impairment of other hypothalamic‐pituitary functions
Authors: Faggiano M. , Minozzi M. , Lombardi G. , Carella C. , Criscuolo T.
Published: July 2010

Plasma hGH response to provocative tests (insulin‐induced hypoglycaemia and arginine infusion) appears normal in Turner's syndrome. Two cases are reported of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) with unusual absence of plasma hGH response to provocative tests (arginine infusion, insulin‐induced hypoglycaemia). Study of other pituitary functions supports the view that a hypothalamic‐pituitary impairment is present in these cases. In fact, in these cases we observed low values of gonadotrophin excretion and limited responses of plasma ACTH and plasma corticosteroids to provocative tests (insulin‐induced hypoglycaemia, metopyrone). Moreover, markedly abnormal plasma TSH response to TRF was observed in Case 2. The results are discussed with reference to the significance of this rare association.
The Nathalie syndrome. A new hereditary syndrome
Authors: Cremers C. W. R. J. , Haar B. G. A. ter , Rens T. J. G. van
Published: July 2010

Deafness, cataract, muscular atrophy, skeletal abnormalities, retardation of growth, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities are the features of a new, probably hereditary syndrome. Case reports are presented.
The 9p‐ deletion syndrome. Report of a patient with a 46, XX, 9p‐ constitution due to a paternal t(9p‐; 15q+) translocation
Authors: Orye E. , Verhaaren H. , Heesvelde A. M. Van den Bogaert‐Van
Published: July 2010

A new case of the 9p‐ chromosome‐deletion syndrome is described. The 9p‐chromosorne, identified by the G‐, R‐, Q‐ and G11‐banding techniques, showed mainly a deletion of bands p23 and p24. Routine chromosome analysis and banding studies in the parents revealed normal chromosomes in the mother and a balanced t (9p; 15q +) translocation in the father. The main clinical features of the proband are narrow cranium, prominent forehead, flat occiput, hypertelorism, flat bridge of the nose, long upper lip, micrognathia, low‐set and abnormal ears, short, broad neck, wide‐set nipples, systolic murmur, umbilical hernia, diastasis musculi recti, short arms and broad thumbs, equinovarus adductus, hypotonia and psychomotor retardation. These clinical findings are compared with those of the three 9p‐ cases found in the literature.
Origin of a small metacentric chromosome: Familial and cytogenetic evidence
Authors: Taylor Kenneth M. , Wolfinger Howard L. , Brown Michael G. , Chadwick David L.
Published: July 2010

A family is described in which the mother has an 18p‐ chromosome, one normal 18, and a probable i(18p). One of the daughters of this woman inherited the 18p‐ chromosome, and her phenotype resembles that of other 18p‐ cases. The other daughter inherited the presumed i(18p) chromosome, and her phenotype resembles that of some cases with extra, small metacentric chromosomes. The clinical, chromosomal, and familial evidence suggest that these abnormal chromosomes originated in the occurrence of one transverse break of the centromere and subsequent misdivision of a chromosome 18 in an earlier generation of this family. According to this interpretation, the mother is trisomic for 18p, one daughter is monosomic and the other daughter tetrasomic for this chromosomal region.
Ring chromosome 6 in a malformed boy
Authors: Salamanca‐Gonez Fabio , Nava Sara , Armendares Salvador
Published: July 2010

In a mentally retarded and malformed boy who died at 6 months of age a ring chromosome 6 was identified by G banding. Clinical, cytogenetical and post‐mortem findings are discussed.
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease
Authors: Thomas George H. , Haslam Robert H. A. , Batshaw Mark L. , Capute Arnold J. , Neidengard Lee , Ransom J. Lawrence
Published: July 2010

A male infant with hyperpipecolic acidemia is described. To our knowledge this is only the second report of this disorder. As with the previous case, our patient's course was characterized by persistent hepatomegaly, severe mental retardation, progressive loss of developmental milestones and diminished visual acuity associated with nystagmus, abnormal discs and retinal changes. Death occurred at 2 years of age, following a progressive loss of neurological function.

Pipecolic acid was repeatedly present in the serum at a concentration of 4–5 mg %. Trace amounts of this compound were also detected in the urine.

In addition, an adaption of the method of Piez et al. (1956) for the direct quantitation of pipecolic acid in serum was evaluated and found to be very useful for the biochemical diagnosis of this disorder.
Hepatitis associated antigen and the ABO locus in Down's syndrome
Authors: Rundle A. T. , Atkin J. , Sudell B.
Published: July 2010

The recent observation by Arndt‐Hansen et al. (1974) of increased frequency of blood group A over group O in blood donors positive for the hepatitis associated antigen has been investigated in Down's syndrome, in order to establish if this could account for the increased frequency of the antigen in that syndrome.

Seventy‐one of 227 subjects with Down's syndrome (31.3%) were found to be positive for the antigen by haemagglutination, and comparison of these with the HAA‐subjects failed to reveal any differences in the ABO blood groups.
Bilateral teratoma of testis in two brothers with 47,XXY Klinefelter's syndrome
Authors: Gustavson K.‐H. , Gamstorp I. , Meurling S.
Published: July 2010

Two brothers, the only children of healthy, unrelated parents with normal karyotypes, had 47,XXY‐Klinefelter's syndrome and bilateral testicular teratomas. The oldest XXY‐boy had, in addition, congenital hydrocephalus caused by congenital stenosis of the aqueduct of Sylvius.
Dicentric X‐isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis
Authors: Cohen Maimon M. , Rosenmann Ada , Hacham‐Zadeh Shoshanah , Dahan Sarah
Published: July 2010

A patient with the clinical stigmata of gonadal dysgenesis is presented. Cytogenetic investigations revealed two distinct structural chromosome rearrangements. One of these, an isochromosome for the long arm of the X, proved to be a dicentric element following C‐banding. The second abnormality, an inherited familial marker, was a pericentric inversion of No. 2 {(inv 2) (p15) q21).
Evidence for an autosomal recessive form of cleidocranial dysostosis
Authors: Goodman R. M. , Tadmor R. , Zaritsky A. , Becker S. A.
Published: July 2010

Three cases of cleidocranial dysostosis from two unrelated consanguineous families are reported. The family setting, the distribution of the affected members, plus the severity of involvement suggest that there is also an autosomal recessive form of this disorder.
Segregation of a t(14q22q) chromosome in a large kindred
Authors: Neu Richard L. , Valentine Frederick A. , Gardner Lytt L.
Published: July 2010

A large kindred is reported in which 21 members are balanced t(14q22q) carriers. The components of the translocation were identified by autoradiography and G‐banding. With the exception of the index case, who was retarded, all of the carriers were phenotypically normal. The segregation pattern of the translocation chromosome was determined in two complete generations. All eight of the progeny in one generation were balanced carriers, and the carrier father of this generation may have been homozygous for the t(14q22q) chromosome. Segregation in the next generation was closer to the expected 1:1 ratio of carrier to non‐carrier, the ratio being 11:13.
Congenital urinary tract malformations: epidemiologic and genetic aspects*
Authors: Bois E. , Feingold J. , Benmaiz H. , Briard M. L.
Published: July 2010

436 index patients with major congenital urinary tract malformations, 385 with upper and 51 with lower urinary tract anomalies, were studied. A significant male sex predominance was noted in each group. No apparent correlation was found between parental age, birth order, birth weight and incidence of these malformations. The association with abnormalities outside the urinary tract was more frequent in the upper urinary tract group. In this group, the mean consanguinity index was 283. 10‐5 and, among those patients where a family study was made, 16.6% had positive family histories. The incidence of urinary tract malformations was 4.0% for the first degree relatives, and 1.1% for second degree relatives (grandparents only). In this group, the concordance rate was 50% in four ***monozygotic, and 0 5% (nil) in three dizygotic, twin pairs. The findings, in agreement with studies of other congenital malformations, suggest at least in part, a multifactorial etiology, particularly in the case of upper urinary tract malformations, depending upon genetic predisposition and environmental factors.
Bone mass in men with Klinefelter's syndrome and in normal subjects, estimated by the cortical thickness of bone
Authors: Auder L. J. , Milne J. S.
Published: July 2010

Metacarpal cortical thickness has been measured in a sample of 47,XXY men and two control samples of 46,XY men and 46,XX women in the age range 20–70. The results suggest that in this age range cortical thickness in 47,XXY men is more similar to that of normal women than normal men.
Down's syndrome with additional XYY aneuploidy
Authors: Leary P. M. , Webb P. M. , Melzer C. W. , Close H. G.
Published: July 2010

A further case of Down's syndrome with additional XYY aneuploidy is reported. The child has been followed for 5 years. It has not been possible to recognise any phenotypical feature which distinguishes the patient from others with Down's syndrome.
Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome
Authors: Passwell J. H. , Goodman R. M. , Ziprkowski M. , Cohen B. E.
Published: July 2010

A new congenital ichthyotic syndrome inherited as an autosomal recessive is described in three propositi of an Iranian family. The main clinical features are non‐bullous congenital ichthyosis, mental retardation, dwarfism, and renal impairment. The nephropathy which previously has not been associated with congenital ichthyosis was manifested by raised blood urea nitrogen and creatinine levels, and a reduced creatinine clearance. The clinical and genetic features of this syndrome are discussed in relationship to the other congenital ichthyotic syndromes.
Diabetes mellitus: discrimination between single locus and muItifactorial models of inheritance
Authors: Goodman Madeleine J. , Chung Chin S.
Published: July 2010

Family data from 6,559 diabetic propositi were analyzed using the method of complex segregation analysis in an attempt to discriminate the two models of two‐allele single‐locus inheritance and multifactorial inheritance for early, middle, and late onset diabetes. The three parameters in the single locus model were: degree of dominance, penetrance, and proportion of phenocopies.

In early onset diabetes, the heritability estimated from the multifactorial model was so high as to indicate major gene action. In middle and late onset diabetes, best fitting singlelocus models were found to explain the data as well as the multifactorial model.
The “labial index” in Down's syndrome
Authors: Iancu Theodore
Published: July 2010

In newborn females with Down's syndrome the labia majora are of a typical appearance, being shorter and wider than in normals. This observation can be expressed numerically by the “labial index”, which in mongoloids was found significantly lower.
Cystic fibrosis heterozygote detection: A family study
Authors: Danes B. Shannon , Beck B. , Flensborg E. Winge
Published: July 2010

Family studies have been done to determine if the phenotypes described for the cystic fibrosis (CF) cultured cell reliably detected the CF gene. Two culture phenotypes were studied in culture derived from consecutive generations in four CF families: (1) cystic fibrosis factor (CFF) in the medium of short‐term white blood cell cultures assayed by a modified oyster ciliary test and (2) the three characteristics of cultured skin fibroblasts (metachromasia without alcianophilia at 0.3 M MgCl2, CFF in the culture medium and metabolic cooperation with normal fibroblasts). As CF is an autosomal recessive disorder, the family offered a test unit for determining the specificity of these cell phenotypes for the CF gene.

On the basis of detecting the CF culture phenotypes in the homozygote and obligatory heterozygotes, the parents, and their segregation in consecutive generations, detection of the CF gene was not possible in the white blood cell cultures, but was possible in the skin fibroblast cultures.
Amniocentesis: Its impact on mothers and infants. A 1‐year follow‐up study
Authors: Robinson Jean , Tennes Katherine , Robinson Arthur
Published: July 2010

In a 1‐year follow‐up study, the effects of amniocentesis for genetic diagnosis upon 22 infants and their mothers were assessed. The infants were tested at 1 year of age on the Bayley Infant Scale of Mental and Motor Development. No deviations from normal mental or motor development were found. The mothers were interviewed at the same time, in order to better understand the emotional aspects of the experience. Women between ages 35‐39 with no previously affected child tended to accept amniocentesis easily, as an appropriate part of prenatal care. Mothers with a previous defective child tended to have more painful emotional reactions, including higher anxiety over the test and more conflict about a possible abortion. They needed more intensive and extended counseling. We suggest that the issue of abortion is important, even if manageable by most women, and that a chance to discuss it may be significant.
Autosomal recessive inheritance of osteogenesis imperfecta
Authors: Horan Frank , Beighton Peter
Published: July 2010

Six individuals in two closely related families in Southern Africa had osteogenesis imperfecta (OI). Although OI is usually inherited as an autosomal dominant, the pattern of transmission in this kindred was consistent with autosomal recessive inheritance.
A study of certain traits accompanying some inherited neurological disorders
Authors: Skre H.
Published: July 2010

Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto‐retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population.

Mental disorders and squints, and in certain instances also ocular myopathy, feeblemindedness, and cataract were found also in non‐HA family members. These traits were particularly frequent in subjects with minor neurological signs previously defined as having an “unspecific neuropathy” (Un), and belonging to kindreds in which autosomal dominant HA segregated. Un clustering in such families is probably caused by other genetic (or other) mechanisms different from that governing the classical HA in the family. These presumably polygenic conditions are thought to be introduced into the HA kindreds by a negative selection.

Optic atrophy, tapeto‐retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA. Such traits were equally rare in unaffected family members and controls. Un in such families as well as the traits mentioned may reflect manifestation of HA genes in heterozygotes. They could also reflect the presence of genes linked to the HA genes.
Otodental dysplasia: a “new” ectodermal dysplasia
Authors: Levin L. Stefan , Jorgenson Ronald J. , Cook Roger A.
Published: July 2010

Otodental dysplasia is an ectodermal dysplasia characterized by abnormal crown morphology of the teeth and sensorineural hearing loss. It was documented in six generations of a kindred of Italian extraction. Thirty‐three of the 119 examined family members were affected. Twenty‐six persons had characteristic dental anomalies combined with a hearing loss. Two had the dental anomalies alone, four had a hearing loss only and one of those with dental anomalies could not be tested for hearing.

The teeth of the 29 with dental anomalies had large, bulbous crowns. The normal relationship between cusps and grooves was obliterated. Molars, both deciduous and permanent, were involved. Deciduous canines were large and bulbous. Absence of pre‐molars was documented in 14 of the 29 individuals with abnormal teeth. Those premolars which were present were frequently small. Radiographs of the teeth showed denticles and taurodontia.

Twenty‐six of the 30 individuals with a hearing loss had concomitant dental anomalies. Of the four with isolated hearing loss, one was proven to have the syndrome. The remaining three were conjectured to he affected. The age of onset of the hearing deficit ranged from early childhood to middle age.

The results of a chi‐square test supported autosomal dominant inheritance. The pleiotropy in this syndrome is postulated to be due to a genetic defect in the neuroectoderm.
Optimum pH for nuclear sex identification using quinacrine
Authors: Korf Bruce R. , Schuh Barbara E. , Salwen Martin J.
Published: July 2010

Preparations of quinacrine stained interphase nuclei from buccal smears and hair root sheaths were mounted in Macllvaine's buffer at various pH's in an attempt to obtain optimum differentiation of X‐ and Y‐chromatin. Relatively high pH (5–8) was associated with intense nuclear fluorescence. Background nuclear fluorescence decreased with lower pH's (2–4), revealing distinct granules. X‐chromatin is best differentiated against this decreased background, while positive identification of Y‐chromatin is more certain in the absence of confusing granules. Hence optimum pH for X‐chromatin screening in quinacrine stained preparations is approximately 3.0, that for Y‐chromatin screening 5.5.
A diploid‐triploid human mosaic with cytogenetic evidence of double fertilization
Authors: Dewald Gordon , Alvarez Marcos N. , Cloutier Mark D. , Kelalis Panayotis P. , Gordon Hymie
Published: July 2010

The karyotype 46,XX/69,XXY was found in a 13‐year‐old, mentally subnormal patient with club feet, strabismus, eunuchoid habitus, small penis, midscrotal urethrovaginal opening, small descended left testis, and small undescended right testis; no ovarian tissue could be found at laparotomy. Triploid:diploid cell ratios were 60:40 and 4:96 in skin fibroblasts and circulating lymphocytes, respectively. In the triploid line, two of the no. 13 chromosomes had unusually large satellites and one of the no. 22 chromosomes had a brightly fluorescent zone on its short arms. The patient's father was heterozygous for both these autosomal markers; the mother carried neither marker. This, together with the single Y, indicated that the extra haploid set was derived from the father. Of several possible mechanisms, we favor the suggestion that double fertilization occurred; one sperm nucleus immediately fused with the egg nucleus producing the diploid line; the second sperm nucleus was incorporated later into one of the two cells resulting from the first division of the zygote, producing the triploid line.
A syndrome of generalized elastic fiber deficiency with leprechaunoid features: a distinct genetic disease with an autosomal recessive mode of inheritance
Authors: Dallaire Louis , Cantin Marc , Melancon Serge B. , Perreault Gilles , Potier Michel
Published: July 2010

Three male infants with generalized elastolysis and leprechaunoid features from two related and consanguineous parents of Italian origin died in the first year of life following severe cardio‐pulmonary complications. While these children showed a decrease in elastic fibers, no degeneration was noted and histochemical as well as systemic metabolic studies were negative. It is postulated that this disease is a variant of cutis laxa or at least that the absence of granular degeneration of the elastic fibers described by Goltz is a secondary manifestation present only in older children. Prenatal diagnosis of this syndrome is not yet possible since no intracellular or biochemical changes have been identified. In view of the familial occurrence of this syndrome, and the association of specific clinical and pathological findings, we suggest that we are dealing with a distinct hereditary disorder of the connective tissue.
A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome*
Authors: Singh Surjit , Willers Ingrid , Goedde H. Werner
Published: July 2010

A method is described which enables prenatal diagnosis of Lesch Nyhan Syndrome (HGPRT deficiency) to be made within 7–10 days. The procedure is based on the direct cultivation of amniotic cells on microtest II plates; the HGPRT reaction is performed in individual wells containing between 500 to 10,000 cells, and is followed by separation of the radioactive reaction products by means of microchromatography on 3 cm × 5 cm PEI plates. This method permits determination of the actual HGPRT enzyme activity of the cell lines.
Frequency of the carrier state for X‐linked chronic granulomatous disease among females with lupus erythematosus
Authors: Humbert James R. , Fishman Charles B. , Weston William L. , DeArmey Patricia A. , Thoren Christine H.
Published: July 2010

Carriers for chronic granulomatous disease (CGD) and patients with lupus erythematosus (LE) share several characteristics: They are mostly females, they reduce nitroblue tetra‐zolium (NBT) poorly in their neutrophils, and, in some cases, they have similar skin lesions. We thus investigated 19 female LE patients for the presence of laboratory findings characteristic of the carrier state for CGD. None of these patients turned out to have the combined abnormality of neutrophil bactericidal activity and neutrophil NBT‐reduction that is diagnostic of CGD carrier state in the X‐linked form. An increased frequency of CGD carriers among female LE patients thus appears to be unlikely. Why some CGD carriers develop skin lesions typical of LE remains unexplained.
Microphotometry of banded human chromosomes III
Authors: Lundsteen Claes , Granum Erik
Published: July 2010

A method is described by which banded chromosomes are scanned from photographic negatives using a computer‐controlled Zeiss scanning‐microscope‐photometer. The method is convenient for research purposes and the results are accurate, reproducible and suitable for further intensive data handling.
The myogenic scapulo‐peroneal syndrome. Muscular dystrophy in the K. kindred: Clinical study and genetics
Authors: Kazakov V. M. , Bogorodinsky D. K. , Skorometz A. A.
Published: July 2010

Additional study was carried out of six generations belonging to the K. kindred, which were previously investigated by Oransky (1927). Eighteen members of this kindred were studied. In the early stages of the disease a sharp dissimilarity was observed in the pheno‐types in the K. kindred, resulting from different rates of development and varying intensity in the course of the disease, so that it ranges from evident scapulo‐peroneal amyotrophy to cases resembling Landouzy‐Dejerine muscular dystrophy. In the later stages of the disease the clinical data on those affected were noted to be very similar.

Muscular dystrophy in the K. kindred has been inherited as an autosomal‐dominant type for five generations. The penetrance of the gene is almost complete. The expressivity of the gene varies from abortive to severe forms of the disease.

From the clinical and genetic data available at the present time, is seems that the muscular dystrophy in the K. kindred is one of the varieties (namely, a descending type with a “jump”) of the facio‐scapulo‐limb (or facioscapulohumeral) muscular dystrophy. The scapulo‐peroneal syndrome could be a long stage in the development of the disorder in some members of the K. kindred.

As well as muscular dystrophy, some muscle anomalies have been independently inherited in the K. kindred. Apparently, muscular dystrophy and muscle defects are caused by the non‐allele genes; this ensures the independent distribution of these signs among the members of the K. kindred.
Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers
Authors: Sutherland Grant R. , Gardiner Andrew J. , Carter Rodney F.
Published: July 2010

An inmate of a hospital for the mentally retarded was found during a cytogenetic screening programme to have karyotype 46,XY,inv(19)(p13q13)mat. Clinical, cytogenetic and family findings are presented and it is concluded that the chromosome abnormality was probably not the cause of the patient's retardation. The problem of genetic counselling of inversion carriers is examined in some detail and estimates of risk are given.
Altered isoenzyme patterns of liver α‐L‐fucosidase in cystic fibrosis
Authors: Alhadeff Jack A. , Tennant Linda , O'Brien John S.
Published: July 2010

The isoenzyme pattern of α‐L‐fucosidase was studied by isoelectric focusing in livers from seven patients with cystic fibrosis and in normal and pathological (GMi‐gangliosidosis, Type II and Sanfilippo disease) controls. The controls had very reproducible patterns consisting of seven isoenzymes of α‐L‐fucosidase with the most neutral form (I) representing a small proportion of the total activity. All seven of the cystic fibrosis livers had altered α‐L‐fucosidase isoenzyme patterns.

The chemical relationship of the seven isoenzymes of normal liver α‐L‐fucosidase was investigated using neuraminidase. The five most acidic forms of α‐L‐fucosidase appear to be related to the most neutral form by sialic acid residues.

Since the isoenzymes of liver α‐L‐fucosidase appear to be related by sialic acid residues, it is possible that the altered α‐L‐fucosidase isoenzyme patterns found in cystic fibrosis livers may result from aberrant sialylation.
The XX male syndrome ‐A case report
Authors: Cullen M. , Greally M. , Greally J.
Published: July 2010

The case of a 27‐year‐old XX male is presented. His clinical, endocrinological, genetical and dermatoglyphical findings are recorded. Theories regarding the aetiology of the XX male syndrome are discussed.
A case of atypical Down's syndrome with mosaic 46,XX/46,XX‐21+t(21q21q)
Authors: Hornstein L. , Soukup S.
Published: July 2010

A girl with clinically atypical Down's syndrome was found to be mosaic 46,XX/46,XX, – 21, + t(21q21q) in skin fibroblast and blood lymphocyte preparations. The importance is stressed of repeated and thorough karyotype analysis to prevent these cases being missed.
A man with presumptive Y/Y translocation, observed in a forensic psychiatric department
Authors: Wahlstrom Jan , Akesson Hans Olof , Eriksson Bengt
Published: July 2010

A man charged with a sexual offence was found to have a complex karyotype anomaly, including a Y‐chromosome of aberrant structure. Other features were: very small stature, skeletal deformities and obscure neurological defects. There were no gross psychiatric symptoms, nor was there mental retardation.

Q‐ and G‐banding and photometric scanning of the chromosomes of the propositus and his three healthy brothers indicated that the aberrant Y‐chromosome probably arose from a reciprocal translocation, which may be written:

Fibroblast cultures differed from the lymphocytes: in the former the majority of the cells lacked the abnormal Y‐chromosome, their karyotype being 45.XO.
Twins in the sibships and parental sibships of women with Turner's syndrome
Authors: Nielsen Johannes , Dahl Gudrun
Published: July 2010

The twin birth frequency in the sibships of 45 females with Turner's syndrome was 3.7 % for the 21 females with 45,X and 5.7 % for the 24 with other karyotypes. The 5.7 % is significantly higher than the expected mean frequency of 1.4 % in the Danish population from 1900 to 1974. The twin birth frequency in the sibships of the mothers of the 24 females with karyotypes other than 45,X was 4.7 %, which is also significantly higher than expected. The twin birth frequency in the sibships of the 21 mothers of 45,X females did not deviate significantly from the expected frequency, and nor did that of the fathers' sibships.

It is concluded that these findings indicate that there might be an association between the increased risk of X chromosome aberration in the progeny due to mitotic non‐disjunction, isochromosome or ring chromosome formation on one hand, and twin formation on the other hand. Such X chromosome aberration and twin formation might thus have some common aetiological factors, and some of the possibilities are discussed.
Genetic lipoprotein variation and lipid levels in man
Authors: Berg Kåre , Hames Curtis , Dahlen Gosta , Frick M. Heikki , Krishan Iqbal
Published: July 2010

Analyses of 12 population samples have revealed that the total serum cholesterol level is significantly higher in Lp(a+) than in Lp(a–) individuals. The difference is more pronounced in middle‐aged and older people than in young persons, and the difference between Lp(a‐h) and Lp(a–) individuals is larger when LDL cholesterol rather than total serum cholesterol is considered. Lp(a –) individuals have a significantly higher triglyceride level than Lp(a +) individuals.

The Lp(a) variation is genetically controlled. Thus, the present study has revealed a small but significant effect of a single, autosomal locus on lipids implicated in atherosclerosis. An association between the phenotype Lp(a +) and coronary heart disease has been demonstrated previously.
The Wolf‐Hirschhorn (4p‐) syndrome
Authors: Johnson Virginia P. , Mulder R. D. , Hosen Richard
Published: July 2010

In a review of 43 cases, the phenotypic spectrum of the Wolf‐Hirschhorn syndrome is analyzed and the frequency of clinical anomalies is tabulated. The characteristic features are intrauterine growth retardation, severe psychomotor retardation, typical facies, and various major and minor congenital anomalies suggestive of a midline fusion defect. Diagnosis is established by karyotyping ‐ deletion of the short arm of chromosome No. 4. All cases so far reported are de novo occurrences with no sibling involvement and normal parents. Prognosis is poor, with death in the first 2 years of life in 34 % of cases, usually due to cardiac decompensation or infection. Psychomotor retardation is profound, so that heroic medical efforts probably need to be reconsidered.
Human chromosome polymorphism and congenital malformations
Authors: Halbrecht Isaac , Shabtay Fiorella
Published: July 2010

Several authors have suggested that heterochromatin polymorphism influences the origin and/or development of different malformations. In this investigation special consideration was given to the Ajqh+ variant. Several families with this variant are reported in which the incidence of otherwise rare malformations is surprisingly high. The possibility that the Aiqh+ variant or, more probably, interactions between all types of heterochromatin polymorphism are of pathogenetic significance is considered.
Significance of genetic factors for the plasma insulin response to glucose in healthy subjects
Authors: Lindsten Jan , Cerasi Erol , Luft Rolf , Morton Newton , Ryman Nils
Published: July 2010

The intravenous glucose tolerance and plasma insulin response to glucose infusion were analysed in a twin and family material, comprising 279 healthy subjects. The relation between the blood glucose and plasma insulin values was studied by an analysis of the principal eigenvalues. The variables obtained were corrected for sex, age and weight, and standardized with regard to mean and variance. The results showed that at least four of the variables have appreciable familial correlations, corresponding to a heritability (h2) varying between 0.38 and 0.72. These correlations could not be accounted for by common environment alone. Thus, the beta cell function in normal man, as measured by a glucose challenge test, appears to be genetically regulated.
Congenital absence of gluteal muscles Report of two sibs
Authors: Carnevale Alessandra , Castillo Victoria del , Sotillo Ana Guía , Larrondo José
Published: July 2010

A family is described with the following features: 1) Two propositi, a male and a female, with congenital absence of gluteal muscles and with spina bifida occulta. 2) Both parents and two apparently normal siblings with sacral spina bifida occulta. 3) Two siblings of the propositi who died soon after birth, one with anencephaly and the other with a probable spina bifida.

Two alternative hypotheses for the etiology of these malformations are suggested: first, the muscular defect could be caused by an autosomal recessive gene independent of the open neural‐tube defects; second, both types of malformations could be due to the same autosomal recessive gene. Then compensatory muscular changes which allow the propositi to walk are discussed.
A comparison of the Dermatogram with other indices for the diagnosis of Down's syndrome*
Authors: Reed Terry , Christian Joe C.
Published: July 2010

The Dermatogram, a dermatoglyphic nomogram based upon four pattern areas, was compared with three other indices for the diagnosis of Down's syndrome (D.S.). The measure of diagnostic accuracy used was the percentage of patients scoring outside reported overlap scores between normal and D.S. The Dermatogram correctly diagnosed 79%of 119 D.S. patients. Two other indices, using more pattern areas and requiring calculations, correctly diagnosed more patients (81 and 87 %), but one had several incorrect diagnoses and the other was less efficient when scored on a small sample of normal, karyotyped, non‐D.S. retardates. The Dermatogram is suggested for use as a rapid diagnostic screen. For patients in the Dermatogram overlap, added discrimination may be obtained from secondary scoring on other indices.