摘要:

Eighty‐one probands from an initial population of 223 school‐aged retarded individuals were assessed by history, clinical examination and, where appropriate, cytogenetic analysis. In 51 individuals, the retardation occurred as an isolated event within the family, whereas 30 patients had a family history of retardation. In 39 of the isolated individuals, the retardation was either related to environmental factors or associated with a major neurological abnormality. The remaining 12 patients were phenotypically normal with no cytogenetic abnormality. Of the 30 probands from 15 families with a history of retardation, 3 families had X‐linked syndromes. One, with 4 proband daughters, had the mar(X) syndrome and two families were considered to have the phenotypically similar syndrome but without demonstrating the mar(X). In an additional 5 families, the distribution and clinical features of the affected individuals were compatible with nonspecific X‐linked mental reta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01854.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

An infant suffering from failure to thrive, hepatosplenomegaly, developmental retardation and early infantile death is described. The proposita demonstrated a type 2 early infantile sialidosis with onset at birth, and death at 4 months. A culture of the proband's fibroblasts showed neuraminidase deficiency, and low activity of the enzyme was found in the lymphocytes of both parents. A previous female child, born prematurely, died 6 h after birth and had hepatosplenomegaly and foam cells in the placenta. There is strong evidence that the inheritance of the disease is autosomal recessive.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01855.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Only six cases of living newborns with apparently complete monosomy 21 have been reported. All the previous cases with the exception of the present case died between 3 weeks and 20 months. Only one of these cases had a postmortem examination. The subject of this report was previously described at the age of 6 years (Davis et al. 1976). He survived until 11 years old and is the oldest known case of complete monosomy 21. We report here the clinical presentation over 11 years, results of gene dosage studies, cytogenetic analysis, and the neuropathological postmortem examination.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01856.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Two women, aged 37 and38, with definite myotonic dystrophy are presented. Neither patient had clinical myotonia although both experienced intermittent jaw tightness. Electromyographic (EMG) myotonia was seen only in the masseter muscle in one and in the masseter and flexor pollicis longus muscle in the other patient. The detection rate of EMG‐myotonia in clinically normal heterozygotes increases if distal, proximal and cranial nerve innervated muscles are examine

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01857.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Byfluorometricanalysisof fastingphenylalanine and tyrosine plasma levels, we could discriminateclassicgene PKU carriers from non‐carriers with 99% confidence in 67 of 74 adults. Results on the remaining seven subjects were non‐discriminating. However, we could not determine their carrier status by other accepted testing parameters either (such as phenylalanine dosing). In contrast to the latter, our method: (1) allows for 90% of the population a relatively accurate but more benign test for carriers of the classical PKU gene (requiring only fluorometry on a singlefastingblood specimen); (2) identifies the remaining 10% of the population who require the more cumbersome‐noxious testing by phenylalanine d

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01858.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Amniotic fluids (AF) obtained by second trimester amniocentesis were examined using a hemagglutination‐inhibition test. In the anti‐A and anti‐B dilution series three different patterns of agglutination were found. One pattern, indicating the presence of high levels of antigen, is typical of secretors (Se/‐) of the blood group antigen. The second pattern is indicative of total absence of soluble antigen and is produced in secretor (Se/‐) and non‐secretor (se/se) fetuses lacking the IAor IBallele at the ABO locus. The third pattern shows the presence oftraceamounts of soluble antigen, about one‐tenth of that found in secretors, and it appears in non‐secretor fetuses bearing the corresponding ABO allele. These trace quantities, if a constant feature of AFs from these non‐secretor fetuses, could allow blood group typing information to be obtained on all non‐secretor as well as secretor fetuses.A total of 157 amniotic fluid samples were surveyed in this and a previous study. Of these, 31 were from non‐secretor fetuses. Blood group type for the 31 non‐secretor fetuses was predicted (“blindly”) on the basis of the presence or absence of trace amounts of soluble antigen. These predictions were verified by standard ABO typing of the infants afterbirth. In each case the (“blind”) typing result agreed with the predictions made from the titration curves. This agreement establishes that the production of trace amounts of soluble antigen(s) is a consistent feature of non‐secretors with the IAand/or IBallele. The soluble blood group substances are of fetal origin and are independent of maternal blood type and secretor status. Type O non‐secretors produce no soluble A or B antigen and also lack detectable soluble H antigen. Thus it appears that the nature of the detectable amounts of soluble blood group antigen(s) present in second‐trimester AF can be used to accurately ass

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01859.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The clinical presentation of Niemann‐Pick type C is variable. However, in families hitherto described, the affected individuals in a given sibship show a similar clinical course. A family with histological and biochemical findings of Niemann‐Pick type C is described. Four of the affected siblings presented with an early onset and a fulminant course resembling Niemann‐Pick type A, whereas in the fifth sibling a later onset and a much slower neurological deterioration was observed. Genetic counseling in families with Niemann‐Pick type C should take into consideration the possibility of clinical heterogeneity within the same

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01860.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The results provided by the Fédération des Centres d'Etude et de Conservation du Sperme Humain (CECOS) are based on 15,283 requests for AID. They are analysed from the point of view of medical genetics. The genetic indications represent 0.77% of requests for AID and can be separated into four groups: dominant autosomal abnormalities in the man, previous children affected by autosomal recessive conditions, chromosomal abnormalities in the man, and a miscellaneous group. In 2,502 births, a total of 45 malformations was seen, including nine chromosomal abnormalities. The possibility of an early amniocentesis for prenatal diagnosis in every pregnancy after AID is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01861.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The number of SCE was compared in the normal and trisomic cell lines of a trisomy 21 mosaic case. It was found that in the trisomic cells the SCE‐frequency was twice as high as in the normal cells. The mitoses with high numbers of SCE (above 10) were increased 4–5 fold. Differential chromatid staining also allowed us to determine the mitotic cycle of the mitoses. The percentage of mitoses from the fourth or a later mitotic cycle was significantly higher in the trisomic cell line than in the normal one. From this result, it can be concluded that the cell cycle time was distinctly shortened in the cells with trisomy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01862.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Chromosomal analyses of cultured lymphocytes from nine patients with familial multiple endocrine adenomatosis (MEA) syndrome type I from six families and two patients ‐ father and daughter ‐ with familial MEA syndrome type II showed an increased frequency of chromosomal breakage. The frequency of sister chromatid exchanges was not increa

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01863.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY