bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetics of hereditary nephropathy with deafness (Alport's disease)
Authors: Preus M. , Fraser F. C.
Published: July 2010

The inheritance of Alport's disease, hereditary nephropathy with deafness, has been re–examined using data from a large French–Canadian kindred and reports from the literature. Sibships in wliich a parent and grandparent were known to carry the gene were used to test for partial sex–linkage. A decrease, rather than the expected increase, in affected sons of affected males with an affected father makes this hypothesis untenable. No matter which grandparent was affected, mothers with the gene had equal numbers of affected and unaffected offspring of both sexes, as expected for autosomal dominant inheritance; fathers with the gene had a decrease from the expected proportion of affected sons and an increase in unaffected sons with no distortion of the sex ratio. The hypotheses of preferential segregation and of a sex–linked dominant modifier gene have likewise been discredited. The findings fit the expectation for autosomal dominant inheritance, with reduced penetrance in the sons of affected fathers; it is suggested that the unfavourable intrauterine milieu of the affected mother increases the penetrance of the gene in her sons to that in her daughters. This is supported by a lower frequency of affected offspring from asymptomatic than from symptomatic carrier mothers. The puzzle remains as to why there is a more serious disease, yet reduced penetrance in the males. Figures appropriate for genetic counselling are provided.
Chromosome studies on male patients at a mental subnormality hospital
Authors: Aitken J. , Brunton M. , Jacobs P. A. , Price W. H. , MacColl K.
Published: July 2010

A chromosome survey carried out on 233 adult male patients at a mental subnormality hospital is described. Five patients with an additional Y chromosome and six with autosome abnormalities were identified. The prevalence of patients with a detectable chromosome abnormality was 4.7%, whereas that of patients with an additional Y chromosome was 2.1%.
Serum intestinal alkaline phosphatase, ABO blood group, secretor status, and lipaemia
Authors: Denborough M. A. , Prineas R. J. , Downing H. J.
Published: July 2010

In 70 apparently healthy volunteers serum intestinal alkaline phosphatase activity was unrelated to both the fasting serum triglyceride concentration and the degree of rise of serum triglyceride level after a standard fatty meal. In addition no association was found between ABO blood group, secretor status, and the serum triglyceride concentration after a fatty meal.

These findings suggest that the presence of intestinal alkaline phosphatase activity in serum, which is known to be related to ABO blood group, secretor status, and, the eating of fatty meals, is unrelated to the amount of fat absorbed by the intestinal cells.
Large human Y chromosome with two fluorescent bands
Authors: Sperling K. , Lackmann J.
Published: July 2010

A report is given on a patient with oligospermia who has a large Y chromosome with two fluorescent bands. It is suggested that the bipartite structure is the result of unequal sister–chromatid exchange.
Inheritance of Gm(g) and a gene complex GmaGmg weak
Authors: Gedde‐Dahl T. , Natvio J. B. , Gundersen Sidsel Kulsrud
Published: July 2010

Gm(a) (x) (g) (f) (b1) were examined in 84 random Norwegian families with 444 children allowing direct estimates of the f,b, a,g, ax,g, and a,b (including a,b0b1, a,b0st, and f,b0b1) gene complex frequencies and an upper estimate of the f,g frequency. Phcnotype and mating type patterns were random (non–assortative).

Disturbed segregation ratios were found in ax,g/f,b×f,b/f,b families irrespective of sex of segregating parents, and in families with a,g/f,b in backcross if segregating parents were separated by sex. In the latter case excess a,g from females was balanced by excess f,b from males, this trend being present also in two other Norwegian family materials (tested for Gm(a) (x) (b1)).

Gm(n) was examined in part of the material, allowing approximate frequency estimates of the polymorphic f,b,n, f,b,n–, a,g,n–, and ax,g,n– and the idiomorphic ax,g,n, a,g,n, a,b0st,n– and a,b b1,n– (fa, b0b1 unassigned). The information on the IgGl–IgG3 and the IgGl, IgG3–IgG2 linkage relations were estimated.

A family with familial low Gm(g) activity was observed and interpretations included a genetically linked cis–IgC3–suppressor gene in analogy with thalassemia genes as well as a structural allele mutation.
Identification of D group chromosomes by autoradiography and fluorescence microscopy
Authors: Krmpotic Eva , Szego Katarina , Modestas Reoina
Published: July 2010

Identification of D group chromosomes was done by quinacrine mustard staining and fluorescence microscopy, as well as by 3H–thymidine labeling and autoradiography. No special instruments were used for the fluorescence microscopy studies. Chromosome 13 was recognized easily by fluorescence microscopy by its typical fluorescence pattern in the lower two–thirds of the long arm, the region of the late labeling in autoradiography. Chromosomes 14 and 15 could be recognized by fluorescence microscopy in most cases. If differentiation is not quite definite, 3H–thymidine labeling and autoradiography should be used to support the findings.
Identification of human G–group and Y chromosomes. Demonstration of constitutive heterochromatin by modified DNA/RNA hybridization technique
Authors: Cervenka Jaroslav
Published: July 2010

Treatment of standard human chromosomal preparations with NaOH and standard saline–citrate demonstrated constitutive heterochromatin. It is localized near the centromere or within the centromeric region in all except the Y chromosome. The technique was used for identification of G and Y chromosomes. In karyotypes of individuals with trisomy G1 (Down's syndrome) chromosomes number 21 (in the trisomy stage) possessed heterochromatin in different distribution from number 22 chromosomes; the latter having a distinctly dark stained centromere. The centromere, short arms, and proximal portion of the long arms of the Y chromosome were free of constitutive heterochromatin, which was demonstrated occupying the distal portion of the long arms. The extent of heterochromatin of the Y chromosome was identical with the heterochromatin demonstrated by quinacrine fluorochromes and responsible for the fluorescent “Y body.”
Sex determination and gonadal differentiation in man
Authors: Boczkowski Krzysztof
Published: July 2010

Sex determination in man and other mammals can be accounted for in terms of three postulates. First, that unless specifically inhibited, the differentiation of the primary gonads goes in the male direction. Second, that the specific inhibiting factor is produced by a structural gene probably located on the X chromosome; this gene need be expressed only in cells of the urogenital ridge. Third, this gene is “switched off” (rendered inactive) by a repressor substance produced by a structural gene located on the Y chromosome.
Hereditary enamel hypoplasia
Authors: Shokeir M. H. K.
Published: July 2010

An extensive family with a total of forty–one individuals who are either affected or reputed to be affected with hereditary hypoplasia of the enamel is presented. The distribution of patients, which spans four generations in this pedigree, appears to be consistent with X–linked dominant inheritance of the disorder. Considerable variability in the severity of affection was observed among both male and female patients. Whereas in the case of the latter, random X–chromosome inactivation may provide an explanation, in the case of the former another mechanism may have to be sought.
Chondrodystrophia calcificans congenita (Conradi's disease) in a mother and her child
Authors: Bergström K. , Gustavson K. ‐H. , Jorulf H.
Published: July 2010

A case of a mother suffering from chondrodystrophia calcificans congenita, who gave birth to a baby with the same disease, is described. The previous idea that this disease shows an autosomal recessive inheritance must be reconsidered, as evidently a dominant inheritance also occurs.
The XYY syndrome in an adolescent male exhibiting prominent behavioral problems
Authors: Alam M. T. , Deschamps R. , Gaba E. , Kasatiya S. S. , Grant W. F.
Published: July 2010

From 1961 until 1971, a male patient of average intelligence underwent clinical and psychiatric investigations in two hospitals for rather prominent behavioral problems affecting learning. The patient was of excessive height and showed abnormally aggressive conduct. Electroencephalogram examinations showed a cyclic pattern in which neurological, primarily coordination, problems were evident. Cytological examination revealed an XYY chromosome constitution. An incident fluorescent system was more effective than a transmitted one in bringing about fluorescence of the Y chromosome.
Giemsa banding patterns of human chromosomes*
Authors: Crossen Peter E.
Published: July 2010

A method of obtaining differentially stained chromosomes is described. The method based on the treatment of the chromosomes with NaOH and subsequent incubation in phosphate buffer and Giemsa staining gave distinct banding patterns in both blood and bone marrow chromosomes. The banding patterns in some instances agreed closely with those of other methods but in others they were dissimilar. A probable explanation for the differences in banding patterns is the various treatments involved in producing banded chromosomes. While repetitive DNA may play a part in band formation, other factors may also be important.
Studies on inherited antigenic variati on of human serum ß‐lipoprotein by passive hemagglutination
Authors: Boman Helge , Klausen Hans
Published: July 2010

Sera from 101 multiparous (3 births or more) women and from 70 unselected normal individuals of both sexes have been tested by the passive hemagglutination method against red blood cells coated with ^‐lipoprotein. Neither antibodies to β‐lipoprotein antigens, nor anti‐“Ag(e)” antibodies were detected. Thus, a previous observation of isoimmunization during pregnancies with inherited β‐lipoprotein antigens was not confirmed.
ABO blood groups, serum cholesteryl esters and plasma lecithin: cholesterol acyltransferase activity
Authors: Hernell O. , Beckman L. , Olivecrona T.
Published: July 2010

The fatty acid compositions of the serum cholesteryl esters and the plasma lecithinxholesterol acyltransferase (LCAT) activities were compared in individuals of blood groups A and O. No significant difference in the distribution of fatty acids was found, hence the higher concentration of esterified cholesterol in blood group A individuals is unlikely to be attributed to a specific source, e.g. contributions from the intestinal mucosa or from the LCAT reaction. LCAT activity was significantly correlated to plasma concentration of both free and esterified cholesterol. There was no difference between the A and O blood groups with respect to LCAT activity.
Studies on the protein moiety of serum high density lipoprotein from patients with familial lecithin: cholesterol acyltransferase deficiency
Authors: Torsvik Harald
Published: July 2010

Serum high density lipoproteins (HDL) from three patients with lecithin: cholesterol acyltransferase (LCAT) deficiency have been studied. HDL from the patients is composed of two components, one of high molecular weight (HM‐HDL) and one of relatively low molecular weight (LM‐HDL). The polypeptides of lipid‐free HDL (apoHDL) from normal subjects were indistinguishable from those of apoHM‐HDL from the patients as judged by treatment with 8 M urea and gel filtration on Sephadex G‐200, immunological experiments, disc electrophoresis, and amino acid analysis. ApoLM‐HDL contained mainly the apoA‐I polypeptide with small amounts of apoA‐II, whereas C‐polypeptides were lacking. The results indicate that the presence of apparently “abnormal” HDL particles in serum of the patients is secondary to the lack of LCAT activity.
Studies on inherited antigenic variation of human serum β‐lipoprotein by passive hemagglutination
Authors: Boman H. , Lanzkowsky P. , Berg K.
Published: July 2010

Sera from 39 unselected children with thalassaemia who had received multiple blood transfusions were examined for the presence of isoantibodies to β‐lipoprotein antigens. Precipitating antibodies were found in 8 sera. In 5 of these, additional non‐precipitating antibodies were detected by the passive hemagglutination method. In another 7 serum samples, only non‐precipitating antibodies were present. Thus, 15 out of 39 sera (38.5 %) contained isoantibodies to β‐lipoprotein antigens. This frequency of antibodies to β‐lipoprotein antigens in patients with thalassaemia is the highest ever reported for any group of multiply‐transfused patients.

A total of 30 antibodies were found in these 15 sera.
The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern
Authors: Brill C. B. , Hsu L. Y. F. , Hirschhorn K.
Published: July 2010

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome) is described in a mother and 3 of her 4 children. Autosomal dominant inheritance was suggested in this family. However, genetic heterogeneity may exist in this syndrome. The significance of associated finClings, incluCling carcinoma of the cervix uteri, lacrimal duct stenosis and urinary tract strictures in patients with ectodermal dysplasia is considered.
The Rubinstein‐Taybi syndrome. Report of 7 cases
Authors: Filippi Giorgio
Published: July 2010

Seven cases of the syndrome first described by Rubinstein and Taybi in 1963 are presented. This condition is characterized by broad thumbs and first toes, mental retardation, facial abnormalities and other minor malformations. Personal and family histories, clinical features, detailed radiologic finClings, and chromosome studies are reported. The dermatoglyphic patterns of the patients are described and compared with previously published data. The etiology of the syndrome is unknown; however, there is some evidence to suggest a genetic basis.
Group‐specific component and haptoglobin distributions in schizophrenic states
Authors: Brackenridge C. J. , Jones I. H.
Published: July 2010

The distributions of plasma group‐specific component (Gc) and haptoglobin (Hp) phenotypes of a large group of schizophrenic patients were compared with those of an unselected group of normal blood donors. Some appreciable differences in Hp phenotype frequencies were found, but there was no marked deviation from Hardy‐Weinberg expectation for either polymorphism. A significant negative regression of the proportion of schizophrenic Hp 2‐2 persons on age was observed.

When schizophrenic patients were individually matched for sex, age and racial background with healthy persons, the previous results were reversed. A difference in Gc distributions was found but the Hp distributions reverted to normal, thus demonstrating the importance of adequate control groups in association studies.

It was concluded that about 10 % fewer Gc heterozygotes and 5 % fewer Hp heterozygotes existed among the schizophrenic than the normal group. In view of the low fertility in schizophrenia, this may play a part in maintaining the balance of these polymorphisms in the general population. Acute illness, paranoid symptoms, age in excess of 40 years, single status, unemployment and lack of occupational skills appeared to be factors associated with the altered Gc distribution found in schizophrenia.
Haptoglobin distributions in Down's syndrome
Authors: Ball J. R. B. , Brackenridge C. J. , McKay H. , Pitt D. B.
Published: July 2010

The distributions of plasma haptoglobin (Hp) phenotypes were determined in Down's syndrome and in a control group of persons with mental retardation due to causes other than Down's syndrome. There was a trend towards a lower proportion of Mongoloid hetcrozygotes than in the control group and this became significant when the data of series from England, Hawaii, Illinois and Victoria were pooled. When Mongoloids and control subjects from Victoria were individually matched for sex, age and country of birth, there was no appreciable difference in Hp types between the groups.

Examination by analysis of variance showed that mean parental ages at birth of Mongoloid patients did not vary with haptoglobin phenotype, but a positive linear regression of the proportion of heterozygous males on maternal age was observed.
Erythrocyte acid phosphatase distributions in normal, schizophrenic and mentally retarded subjects
Authors: Brackenridge C. J. , Chan C. H. , Pitt D. B.
Published: July 2010

Erythrocyte acid phosphatase (AP) distributions were determined in healthy Australian subjects and in schizophrenic and mentally retarded patients with and without Down's syndrome. No differences due to sex or age were found. For normal persons there was a higher proportion of homozygotes among light cigarette smokers than among moderate and heavy smokers. Phenotype frequencies did not conform to Hardy‐Weinberg proportions in Down's syndrome, but no evidence for assigning the locus to chromosome 21 was obtained. A significant association was observed between haptoglobin and AP systems in mentally retarded persons. This was consistent with conditional heterozygotic advantage, heterozygosity in one system being favoured by homozygosity in the other.
A differential staining technique for chromosome identification and its comparison with fluorescence technique
Authors: CHERNAY P. R. , Kardon N. B. , Hsu L. Y. , Shapiro L. R. , Beratis N. G. , Kerr J. , Hirschhorn K.
Published: July 2010

A cytochemical differential staining technique for localizing repetitive DNA in metaphase preparations and quinacrine fluorescent staining of metaphase preparations were used simultaneously, and the methodology is described. An idiogram for the differential staining technique was developed and a comparison of the idiograms of both techniques revealed that the differential staining technique involves primarily the localization of repetitive DNA at or near the centromere, whereas with the quinacrine fluorescence technique nearly the entire length of the chromosome fluoresces to produce characteristic banding patterns. The combined use of these methods can be a valuable tool in the study of human chromosomes and provides a practical aid in the identification of individual chromosomes and the further definition of their structure.
Down's syndrome in twins
Authors: Shapiro L. R. , Farnsworth P. G.
Published: July 2010

Male twins concordant for Down's syndrome and female twins discordant for Down's syndrome were investigated. Both males have trisomy 21 (47, XY, 21 +), and their parents are normal. One of the female twins is mosaic for trisomy 21 (46, XX/47, XX, 21 +) and the other is normal (46, XX). On the basis of multiple parameters, it is suggested that both pairs of twins are mono‐zygous, including the female twins discordant for Down's syndrome.

Once the underlying cytogenetic mechanisms are understood and elucidated, genetic counselling can be undertaken.
A marker algebra
Authors: Edwards J. H.
Published: July 2010

An algebra is introduced which allows for the simultaneous manipulation of paired qualities and quantities, with special reference to qualities showing a Mendelian relationship, and to the combined operation of pairs of loci which may or may not recombine. A description is given of a set of subroutines for the manipulation of data and the estimation of parameters relating to gene frequencies and recombination fractions.
Localization of male determining factor on short arm of Y chromosome Case report of a baby with 46, x, t (Yp+;14q‐)
Authors: Krmpotk E. , Szego K. , Modestas R. , Molabola G. B.
Published: July 2010

The case of a premature underdeveloped male baby showing an asymmetrical face and minor congenital malformations is presented. The baby expired on the 6th day of life. Chromosome studies by light and fluorescence microscopy showed a translocation between the distal two‐thirds of the No. 14 chromosome and the Y chromosome (46, X, t(Yp+; 14q –)). The karyotypes of the parents were normal. The father's “Y body” was morphologically similar to that of the propositus. The cytogenetic findings are relevant in the light of the present hypothesis that the male sex determining factor is to be found on the short arm of the Y chromosome. The translocation chromosome contained the whole long arm of the Y chromosome, its centromere and the centro‐meric portion of its short arm. This suggests that the male determining factor is located on the centromeric portion of the short arm of the Y chromosome.
An abnormal large human chromosome identified as an end‐to‐end fusion of two X's by combined results of the new banding techniques and microdensitometry
Authors: Distèche C. , Hagemeuer A. , Frederic J. , Prqgneaux D.
Published: July 2010

An abnormal large chromosome was described by Gouw et al. (1964) in the karyotype (46 X‐X?) of a patient presenting a Turner‐like syndrome. The structure of this abnormal chromosome, re‐studied with the new banding techniques (Quinacrine mustard fluorescence completed with micro‐densitometric recordings, modified Giemsa and centromeric stainings) appears to be the result of a fusion of two X chromosomes, short arms to short arms. This chromosome is not dicentric but C‐heterochromatin has been demonstrated on its long arms, at the probable centromeric region of the second X involved in the fusion.

These findings, their relation to the clinical features and their possible mechanisms of formation, are discussed.
Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome
Authors: Fried K.
Published: July 2010

An adult female with ectrodactyly‐ectodermal dysplasia clefting (EEC) syndrome is described. The main features of this syndrome are: bilateral cleft lip and palate, split hands, abnormal hair and teeth, and chronic inflammation of the eyes. The similarity between the three children previously described and this patient further supports the concept of this syndrome as a specific entity. The intelligence of this woman was within normal limits and the main disablement was partial blindness, which seems to be the most serious complication of the syndrome.
Presence of ß‐lipoprotein in serum of patients treated for acrodermatitis enteropathica (Danbolt's disease)
Authors: Berg K. , Danbolt N. , Espedal A. , Røyneland O. , Wollebæk E.
Published: July 2010

Serum β‐lipoprotein was found to be quantitatively and qualitatively normal in three patients treated for acrodermatitis enteropathica. This study was prompted by the report of Zaidman et al. (1971) of complete absence of β‐lipoprotein in a severely ill infant with acrodermatitis enteropathica. Our observations support the view that the lipoprotein anomaly in the latter patient was secondary to the disease. The patient studied by Zaidman and his coworkers appears to be the first reported case of secondary complete absence of serum β‐lipoprotein.
Correlation between colour vision disturbance and appetite for alcohol
Authors: Cruz‐Coke R. , Rivera L. , Varela A. , Mardones J.
Published: July 2010

A sample of 150 male subjects was examined with a battery of colour vision tests (Ishihara, Hardy‐Rand‐Ritter, F‐M 100 Hue, and Pickford‐Nicolson anomaloscope), in order to analyze the distribution of colour vision disturbance in relation to the different types of appetite for alcohol (rejection, indifference, physiological, pharmacological and pathological).

Results showed a highly significant association (P < 0.001) between blue‐yellow colour vision disturbances and pharmacological appetite either accompained by a pathological appetite or not.
Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies
Authors: O'Brien J. S. , Ho M. W. , Veath M. L. , Wilson J. F. , Myers G. , Opitz J. M. , Zurhein G. M. , Spranger J. W. , Hartmann H. A. , Haneberg B. , Grosses F. R.
Published: July 2010

Clinical, histological, chemical and enzymatic studies are reported in five patients in two families with juvenile GM1 gangliosidosis (GM1 gangliosidosis, Type 2). The clinical picture includes onset of mental and motor retardation beginning at about one year of age and progressive neurological decline with death usually within the first decade. Bony deformities, although mild, are often present and are diagnostically helpful. Ganglioside GM1 and a galactose‐containing polysaccharide (similar to keratan sulfate) are stored, β‐galactosidase activities are reduced in tissues and cultured skin fibroblasts; both homozygotes and heterozygotes can be detected by this method. The differentiation of juvenile GM1 gangliosidosis from generalized gangliosidosis (GM1 gangliosidosis, Type 1) is discussed.
Pseudo‐achondrogenesis with fractures
Authors: Harris R. , Patton J. T. , Barson A. J.
Published: July 2010

Two siblings are described who had some features characteristic of thanatophoric dwarfism and others characteristic of achondrogenesis. Pathologic fractures are not usually associated with these two forms of lethal short limbed dwarfism but were found in both infants. It is possible that the siblings reported here represent a new nosological entity.
Dentinogenesis imperfecta: severe expression in a probable homozygote
Authors: Shokeir M. H. K.
Published: July 2010

A family wherein 25 individuals, of whom 23 are affected and 2 are reputed to be affected with dentinogenesis imperfecta, is presented. The distribution of the patients which spans 5 generations in this pedigree accords well with autosomal dominant transmission of the disorder. A consanguineous marriage of 2 second cousins both of whom are affected has resulted in 4 offspring: unaffected, 2 affected with moderate severity and one with markedly severe involvement. These are held to correspond to 3 genotypic classes: homozygous lor the normal allele, heterozygotes, and homozygous for the mutant allele of dentinogenesis imperfecta, respectively. Relevant examples in other dominantly transmitted disorders of individuals affected with unusual severity, encountered among the progeny of matings between more typically affected parents and were thus presumed to be homozygotes, are also described. To our knowledge no instance of homozygosity for the dentinogenesis imperfecta gene has previously been described.
Australia antigen and Down's syndrome
Authors: Shiono H. , Kadowaki J. , Kasahara S. , Nakao T.
Published: July 2010

Tests for the presence of Australia antigen were performed on 175 patients with Down's syndrome, 84 of whom were non‐institutionalized, and 378 patients with mental retardation due to other causes.

Au(1) antigen was detected in 9 (5.1%) of 175 patients with Down's syndrome and in 14 (3.7%) of 378 patients with other forms of mental retardation. The frequency of Au(1) antigen was 2.4% in 84 non‐institutionalized patients with Down's syndrome, and 7.7% in 91 institutionalized patients. The frequency of Au(1) antigen with Down's syndrome was lower on the average in Japan than in the United States or Germany, but similar to that found in Poland.

Au(1) antigen was not detected in 43 mothers of patients with Down's syndrome.

The mean duration of transient serum Au(l) antigen positivity in Down's syndrome was slightly longer than that of patients with other forms of mental retardation.

The association of sGOT and sGPT value elevation with positive Au(1) antigen was not apparent in our studies.
Variability in mongolism ‐a comparison of the hand skeleton in mongoloids and normals
Authors: Hall Bertil , Ringertz Hans
Published: July 2010

It is still not known how deviations in the chromosomal constitution in man influence the fetal and postnatal development processes. More knowledge about the clinical variability between individuals and the degree of instability in different organ systems in human chromosomal syndromes would be of value. For many reasons, mongolism is one of the best syndromes for such investigations. The present paper reports on the variability and instability in newborn and older mongoloids, some of whom are part of a follow‐up study.
Attempted detection of heterozygotes for maple‐syrup‐urine disease
Authors: McKnight Mary T. , Spence M. W.
Published: July 2010

The production of 14CO2 from [1‐14C] leucine by isolated leucocytes from four females and three males heterozygous for maple‐syrup‐urine disease (M. S. U. D.) of classical phenotypc and from urban and rural control groups was determined. Although not significantly different, values tended to be lower for female than for male controls and for rural than for urban controls. The mean values for females (heterozygotes, and rural and urban controls) were not significantly different, and although the mean value for male heterozygotes was significantly less than the means for male controls and female obligate heterozygotes, some male controls had values within the hetero‐zygote range. Thus, the unambiguous identification of heterozygotes in this kindred was not possible with this assay system.
Rheumatoid arthritis in the 46, XX, 18p‐ syndrome
Authors: Finley Sara C. , Finley W. H. , Johnson J. C. , Dodson W. H. , McPhee H. T.
Published: July 2010

Some of the evidence suggesting a relationship between autoimmunity and chromosomal aberrations is reviewed and an example which may support such a relationship is presented. The propositus was a 5‐year‐old Caucasian female who had juvenile rheumatoid arthritis and a deletion of the short arm of a chromosome 18 (46, XX, 18p‐). Her serum IKA was normal, although IgA deficiency has been reported in a significant number of patients having an 18 deletion syndrome as well as in patients having rheumatoid arthritis. This patient focuses attention on the presently unresolved problem of the association between autoimmune disease and chromosomal aberrations.
8‐trisomy in the bone marrow. Report of two cases
Authors: CHAPELLE A. DE LA , SCHRODER J. , VUOPIO P.
Published: July 2010

The extra C chromosome in bone marrow mitoses from two patients with haematological disorders was identified as a number 8 by modified Giemsa staining followed by quinacrine mustard fluorescence. One of the patients had intermittent severe pancytopenia and the other mild granulocytopenia and thrombocytopenia. In spite of their differences in symptomatology, our attention was drawn to certain similarities, the most noticeable of which was ineffective erythropoiesis.

From these results and a case report published by others it was concluded that all 3 patients with C‐trisomy of the bone marrow in whom the extra chromosome had been identified, had 8‐trisomy. Hence 8‐trisomy may account for a significant proportion of all bone marrow C‐tri‐somies, as is the case in congenital C‐trisomy. While 8‐trisomy is not necessarily a primary event in the aetiology of the malignant condition, it is possible that it gives the cells an advantage over other cells, and that this allows the trisomic cells to selectively populate the bone marrow. It may also lead to certain similarities in the clinical pictures, such as pronounced ineffectiveness of erythropoiesis.
Effects of the XYY karyotype in one of two brothers with congenital adrenal hyperplasia
Authors: Mallin S. R. , Walker F. A.
Published: July 2010

One of two brothers with the virilizing adrenogenital syndrome manifested slow psychomotor development and was initially diagnosed as having “infantile autism”. He developed an osteogenic sarcoma, and skin, lymphocytes and cultured tumor cells showed a 47, XYY karyotype. The younger brother shows normal behavior and has a 46, XY chromosome constitution. Both children showed the same hormonal response to steroid suppression therapy, but the XYY boy continued in an abnormal growth pattern.
Some observations on the blood levels of phenylalanine in dilute mice and a comparison between human phenylketonuria and the disease of mice homozygous for the dilute lethal gene
Authors: Seller Mary J.
Published: July 2010

The plasma phenylalanine levels of adult and juvenile (18–22 days old) dilute mice were measured. No difference could be found between the levels of the dilute lethal mice and their normal litter‐mates. However, in two dying dilute lethal mice the levels were markedly raised. The adult mice had a significantly lower concentration than the juveniles. Dilute lethal mice subjected to a phenylalanine load (300 mg/kg) had normal blood phenylalanine levels when tested two hours later. The apparent similarity of many clinical aspects of human phenylketonuria and the disease of the dilute lethal mice is discussed, but it is shown that when studied in detail the similarity is usually only superficial. It would appear that the dilute lethal mice cannot be regarded as a model for “classical” phenylketonuria in man or its variants with raised blood phenylalanine levels.
PEDIG ‐ A computer program for calculation of genotype probabilities using phenotype information
Authors: Heuch Ivar , Li Francis H. F.
Published: July 2010

A program has been constructed for computer calculation of the probabilities of certain genotypes for a given propositus, conditional on the phenotype information in a pedigree without loops. The program can be applied directly for one autosomal or sex‐linked locus, but is in fact more general and can easily be adapted to handle any situation with a completely known mode of inheritance.
Pseudovaginal perineoscrotal hypospadias
Authors: Opitz J. M. , Simpson J. L. , Sarto G. E. , Summitt R. L. , New M. , German J.
Published: July 2010

Familial male pseudohermaphroditism represents a group of clinically and genetically heterogeneous conditions. The “complete” or most severe forms of the Swyer syndrome and the “feminizing testes syndrome” (FTS) are easy to diagnose and to differentiate from the other types of genetic male pseudohermaphroditism. This paper deals primarily with one of these conditions: pseudovaginal perineoscrotal hypospadias (PPSH) which presumably is due to the homozygous state of an uncommon recessive gene and which is (classically) characterized by perineoscrotal hypospadias with either a separate perineal vaginal opening or a utricular “pseudovaginal” outpouching of the urethra, cleft scrotum‐like labioscrotal folds, each containing a grossly and microscopically normal testis with epididymis and rudimentary vas deferens, absence of Müllerian duct derivatives, striking virilization at puberty, usually with no or only minimal gynecomastia. The authors report one sporadic and nine familial cases of PPSH from five families and discuss the differential diagnosis of PPSH primarily with respect to the so‐called incomplete feminizing testes syndrome(s) (IFTS), the “Reifenstein syndrome”, and the “incomplete” forms of the Swyer syndrome. The pertinent available reports on PPSH, the IFTS, and the Reifenstein syndrome are abstracted in separate appendices to this paper.
A case of classical maple syrup urine disease “Thiamine non‐responsive”
Authors: Wong P. W. K. , Justice P. , Smith G. F. , Hsia D. Y. Y.
Published: July 2010

Leukocytes and skin fibroblasts from a patient with classical maple syrup urine disease (M.S.U.D.) contained virtually no branched‐chain keto acid decarboxylase activity. Those of his parents had approximately 50 % of normal activity, and those of his sister had normal activity.

The patient was treated from the second week of life with a “synthetic diet”. At the age of 2 months, when the patient was completely free of symptoms, 20 mg of thiamine three times daily was given orally. On the second day of treatment, he was challenged with cow's milk. Within 12 hours he became irritable; within 24 hours he refused feeding and his urine had the characteristic odor of M.S.U.D. The symptoms became more marked with progressive increase of plasma branched‐chain amino acids.

This classical M.S.U.D., like the intermediate type, did not respond to thiamine Iherapy.
Induction of testis alcohol dehydrogenase in prepubertal rats
Authors: Engel W. , Frowein J. , Krone W. , Wolf U.
Published: July 2010

While kidney alcohol dehydrogenase (ADH) was reported to be inducible by testosterone (Ohnoet al.1970a, b), testis ADH does not respond to this hormone. The inducibility of this enzyme by gonadotropins was investigated. Although follicle‐stimulating hormone (FSH) and human chorion gonadotropin (HCG) cause a similar increase of the weight of the testes of prepubertal rats, only HCG is active in stimulating testis ADH activity in these animals. Chronic injections of this hormone from the 17th day after birth onwards cause a sharp rise of ADH activity on day 24, surpassing the physiological increase which occurs in control animals during puberty (day 55). In 24‐day‐old rats, ADH activity can also be provoked by dibutyryl‐cAMP and by theophylline, applied separately or in combination. This effect can be enhanced by a brief pretreatment with HCG which does not cause an increase of ADH activity. It is suggested that HCG, after stimulating the development of Leydig cells, exerts its effect through the mediation of cAMP.
Pure gonadal dysgenesis
Authors: Nielsen J. , Friedrich U.
Published: July 2010

Chromosome examination with analysis of 500 cells in each of the three out of seven females with pure gonadal dysgenesis, who had the karyotype 46, XX, has been made in order to look for chromosome mosaics. The karyotype in two of the three was 46, XX as found from analysis of only 30 cells; one of them had, however, pericentric inversion of chromosome 1 in 2 of 500 cells.

One patient had the karyotype 46, XX/46, XX,Dr with a ring D in 1.2% of the 500 cells analysed. The possibility that minor autosomal chromosome aberrations are aetiological factors in pure gonadal dysgenesis is discussed, and case histories of the three patients are presented.
Hypophosphatasia: screening and family investigations in an endogamous Hungarian village
Authors: Méhes K. , Klujber L. , Lassu G. , Kajtár P.
Published: July 2010

A screening programme for hypophosphatasia was performed in a Hungarian village where a family with the disease had previously been observed. Consanguinity was known to be common in this area.

198 schoolchildren were tested. As to physical signs, low serum alkaline phosphatase activity, and phospho‐ethanolamine excretion, 3 homozygotes and 12 heterozygotes of the juvenile type of hypophosphatasia were discovered among them. The families of the positive children were investigated; thus altogether 34 subjects were found to be affected by the disease.

Tubular reabsorption of phosphates proved to be decreased in the homozygotes and in about half the heterozygotes.

In 4 families a transition between hypophosphatasia and pseudohypophosphatasia, i.e. the typical clinical and biochemical picture without a low serum alkaline phosphatase level, was observed. This suggests that the two conditions belong to the same entity.
Evolution of palmar skin creases in the Ehlers‐Danlos syndrome
Authors: Goodman R. M. , Katznelson M. Bat‐Miriam , Frydman M.
Published: July 2010

The Ehlers‐Danlos syndrome (E‐D) is a well recognized genetic disorder of connective tissue of unknown etiology. In the classical form of the disease, skin and joint changes involving the hand often suggest the clinical diagnosis. By studying three affected members in three generations of a family with E‐D by means of fingerprint analysis, we have shown the evolution of secondary palmar creases. The possible etiology and significance of these secondary skin creases are discussed.
DNA synthesis of human XYY cells
Authors: Santesson B. , Böök J. A. , Gustavson K.‐H.
Published: July 2010

The autoradiographic YY labelling pattern of the DNA replication in 47, XYY cells of two patients has been studied. Both Y chromosomes began DNA replication simultaneously but later than the rest of the chromosomes. During later stages the YY labelling pattern in both patients was correlated to the position of the cells in S, as indicated by the cell grain count: in cells with more than approximately 500 grains the synchronous labelling of the Y chromosomes was the rule; whereas during later stages in cells with approximately 100–400 grains, synchronous as well as asynchronous labelling in the same patient was found. In cells with less than about 100 grains, both Y chromosomes usually had completed replication. No obvious difference between the labelling pattern of the two Y chromosomes was found when cells from the 2 patients were compared at the same stage of S. Our results demonstrate the importance of analysing cells of comparable developmental stages of S when comparing DNA labelling patterns of different XYY individuals in search of a possible correlation between labelling pattern and phenotypic expression of the syndrome.

In one of the patients the QM fluorescence pattern as well as the autoradiographic pattern of the same cells was studied. The characteristic intense fluorescence pattern of both Y chromosomes was found even in cells where the autoradiographic labelling pattern indicated distinct asynchrony between the two Y chromosomes. The significance of these findings is discussed.
Unusual features in familial asphyxiating thoracic dysplasia (Jeune's disease)
Authors: Schmidt R. , Pajewski M. , Mundel G.
Published: July 2010

Asphyxiating thoracic dysplasia or Jeune's disease is a hereditary condition characterized by typical roentgenologic changes of the ribs, pelvis and extremities. Affected infants have very narrow chests and suffer from respiratory insufficiency which often leads to early death.

A large family of Arabic and Greek origin is described. Two siblings were dwarfed, had narrow chests and skeletal changes similar to those seen in Jeune's disease. In both infants widening and shortening of the left lower ribs and a trident appearance of the pelvis was demonstrated. One child who was severely mentally retarded died in infancy from bronchopneumonia and the other suffers from respiratory difficulties. Other members of the family had roentgenologic changes of the pelvis, spine and skull and mental retardation, features which have not previously been described in this disease.
Polymorphism of the human Y chromosome: Fluorescence microscopic studies on the sites of morphologic variation
Authors: Tishler P. V. , Lamborot‐Manzur M. , Atkins L.
Published: July 2010

Normalized measurements were derived from quinacrine mustard stained normal‐ and variant‐size (large and small) human Y chromosomes. These measurements were used to study three problems:

(1) the mechanism underlying the evolution of common heritable variations in the length of the long arm (q) ‐ All variants demonstrated differences in length of the distal fluorocenter, and some differed from normal by an integral length (e. g., the fluorocenter of subject Large Y was twice the normal size), Y's from one subject (Short Y‐e) were also shortened in the weakly fluorescent, proximal portion, the length of which was about one fourth the normal length. These data suggest that duplications or deletions of finite lengths (possibly a basic subunit) of chromosome are one means by which the variants have evolved.

(2) the extent of Yq that is genetically dispensible, and presumably inactive ‐ Variations in the Y fluorocenter produce no phenotypic effect. Additionally, Y's from a previously reported kindred have a 50 % deletion, and those from subject short 4‐e about a 75 % deletion of the weakly fluorescent portion of Yq. Although Short Y‐e demonstrates the features of dyschondrosteosis, it seems that both the fluorocenter and 50–75 % of the weakly fluorescent portion of Yq are genetically inactive.

(3) the position of the secondary constriction in Yq ‐ The position of the secondary constriction is virtually identical with the origin of the fluorocenter.
High frequency of atypical pseudocholinesterase gene among Iraqi and Iranian Jews*
Authors: Szeinberg A. , Pipano S. , Assa M. , Medalie J. H. , Neufeld H. N.
Published: July 2010

A large scale survey of the frequency of atypical pseudocholinesterase was carried out in a sample of 9,500 Jewish males in Israel. A very high frequency of the Eja gene, exceeding that reported for any other population so far studied, has been found among Iraqi and Iranian Jews (gene frequencies 0.047 and 0.075, heterozygotes frequencies 8.9 % and 11.3 %). Carriers of the Ejf gene were found among Ashkenazi (European Jews) as well as among non‐Ashkenazi Jews from Iraq, Yemen and North Africa. One case homozygous for E]S gene has been found among North African Jews.

In the whole sample 8 subjects of phenotype A (frequency 1 : 1188), 8 of phenotype AF (frequency 1 :1188) and 1 with phenotype S were found. Among their family members we found additional cases with phenotypes A and AF, as well as 1 subject with phenotype F. Since these phenotypes are known to be sensitive to suxamethonium, these subjects were advised to avoid suxamethonium administration.
Familial polysyndactyly and craniofacial anomalies
Authors: Hootnick D. , Holmes L. B.
Published: July 2010

We have studied a boy and his father with polysyndactyly, hypertelorism, broad nose and scaphocephaly. Their features are similar to three previously described families and together constitute an autosomal dominant dysmorphic syndrome.
Three non‐mongoloid patients of similar phenotype with an extra G‐like chromosome
Authors: Gustavson K.‐H. , Hitrec V. , Santesson B.
Published: July 2010

Three mentally retarded non‐mongolid children with very similar clinical signs and an extra G‐like chromosome are presented. In one of these patients, Case I, an attempt to trace the origin of the extra chromosome has been made by QM fluorescence analysis and autoradiography. Visually the QM pattern of the extra chromosome differs from that of chromosomes 21 and 22 by showing a diffuse fluorescence of intermediate intensity in the long arm, not unlike that found in the proximal part of the long arm of chromosome no. 13. However, whether these are sufficiently similar to indicate homologous regions cannot be decided. The autoradiographic pattern is not decisive as to the origin of the extra chromosome; it shows early labelling, as do no. 22 and the short arm and proximal part of the long arm of no. 13.

Case II, a sibling of Case I, died in 1962 at the age of 6 years (Gustavson et al. 1962). In Case III the autoradiographic pattern of the five G‐group chromosomes is similar to that found in Case I.

The clinical and cytogenetic features of these 3 patients are compared with those of 9 other previously reported patients with a similar phenotype and an extra small acrocentric chromosome. These 12 patients seem to constitute a specific clinical syndrome.
The effects of genetic counselling in Duchenne muscular dystrophy
Authors: Emery A. E. H. , Watt M. S. , Clack E. R.
Published: July 2010

The results of a follow‐up study are presented of 53 women referred for genetic counselling between 1965 and 1969 in families with Duchenne muscular dystrophy. On the basis of pedigree data and serum levels of creatine kinase, 41 were considered to be at high risk (greater than 1 in 10), 5 at medium risk (1 in 10 to 1 in 20), and 7 at low risk (less than 1 in 20) of having an affected son or carrier daughter. In the high risk group only two were undeterred from pregnancy but one of these has subsequently been sterilized, two opted for selective abortion. Four women at high risk of having an affected son were actually pregnant at the time they were referred for counselling. The need for expert contraceptive advice is emphasized and follow‐up of such families proved important for support and to discuss developments such as selective abortion.
A chromosome survey of a hospital for the mentally subnormal Part 1: Sex chromosome abnormalities
Authors: Newton M. S. , Jacobs P. A. , Price W. H. , Woodcock G. , Fraser I. A.
Published: July 2010

In a chromosome survey of 694 men and 561 women in a hospital for the mentally subnormal, 3 men (0.4%) and 7 women (1.2%) were found to have an abnormal chromosome constitution. No males with a 47,XYY sex chromosome complement were found.