摘要:

One hundred and fifty male patients with mental retardation of unknown origin were studied cytogenetically. Six patients (4%) were: marker X‐positive. All these index cases were found in a subgroup of patients with no dysmorphic features, significant neurological findings or childhood psychosis. In this subgroup the frequency was 8.8%. One of the index cases had a family history suggestive of X‐linked mental retardation, four had retarded 1st degree relatives and one had no family history of mental retardat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01973.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

In order to try to detect heterogeneity within insulin dependent diabetes mellitus (IDDM) and to distinguish a mode of inheritance of IDDM, population genetic analyses were performed using HLA allele frequencies. HLA‐A and ‐B typing performed on 231 IDDM individuals and 268 controls from the southeastern U.S. showed significant increases with IDDM in A2, B8, B15 and B18, and significant decreases in Aw23, B7, B14 and B17. The combination of HLA‐B8/B15 showed a greatly increased risk (RR = 25.5). Between the 120 IDDM individuals and 123 controls HLA‐DR typed, HLA‐DR3 and ‐DR4 were significantly increased among the IDDM group and DR2 and DR7 were decreased. The risk for DR3/4 was 29.2. It appeared that the B15 association was secondary to the DR4, but the B8/DR3 association showed no difference. Using the method of Curie‐Cohen, no significant increases in risk were found for the B8/B15 or DR3/DR4 heterozygotes when compared to the respective homozygotes. Using the method of Thomson and Bodmer, the dominant mode of inheritance was excluded for DR4 only. There was a significant increase in B15 and DR4 in those with onset before age 20. No significant differences were found among the DR phenotypes with resp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01974.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Serum phenylalanine (phe) concentrations during and following phe challenges and liver phenylalanine hydroxylase (PH) activity were compared in 13 phenylketonuric (PKU) patients. These patients were separated into two groups: eight patients with no detectable PH activity (PH°) and five patients with residual PH activity (PH‐) ranging from 9 to 24% of the activity obtained in 10 non‐PKU subjects. The rise in serum phe concentration during 3 days of oral loading did not differentiate the two groups. However, the difference in serum phe concentration of the PH° and PH‐groups reached statistical significance at 24 h postloading (p<0.01). We concluded that combined results from multiple measurements during the oral challenge, namely serum phe concentration after termination of loading, serum phe clearance rate, post‐loading phe tolerance index and urinary metabolite excretion, make a better indicator for predicting residual PH activity for the majority of PKU subjects than peak phe concentrations during phe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01975.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The blood pressures of 79 consecutive patients with myotonic dystrophy have been shown to be significantly lower than those of a control series. Reanalysis of previously published data on a group of 17 myotonic dystrophy patients shows a similar result. The possibility that relative hypotension may confer a selective genetic advantage on asymptomatic gene carriers in the community is considered. It is suggested that, since patients with minimal clinical evidence of disease are also hypotensive, measurement of blood pressure may be useful as an adjunct to other methods of preclinical diagnosis of myotonic dystrophy.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01976.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in nowFinnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01977.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

In order to obtain a quantitative estimate of the degree of association between presence of fragile X chromosome (fra(X)) and mental retardation (MR), existing data from nonretarded males were analyzed. Clearly, fra(X) occurs less frequently among nonretarded compared to MR males. However, incidence estimates for fra(X) based upon existing data hold open the possibility that there may be significant numbers of nonretarded males with fra(X). Additional analyses of data from families with a pattern of fra(X) linked MR showed: (a) the probability that nonretarded male offspring will have fra(X) is very small, and (b) the probability that MR male offspring will have fra(X) is very large. Thus, accurate prognostic decisions can be based upon prenatal diagnosis of fra(X) presence, especially in families with a pattern of fra(X) linked MR.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01978.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A further case is presented of a new growth deficiency syndrome first reported by Myre et al. in 1981. The major clinical features are mental retardation, growth deficiency, muscular hypertrophy, joint limitation and abnormal skeletal radiography.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01979.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A patient with clinical features of Turner syndrome and a 45, X karyotype in repeated blood cultures was re‐evaluated when she spontaneously entered puberty. A ring X cell line was found in a small proportion of fibroblasts. A review of 35 previously published ring X cases is presented. All are mosaic, the major cell line in most cases being 45, X. There is wide variation in the frequency with which the abnormalities associated with Turner syndrome are found in these patients. All have short stature. Some are sexually developed and fertile. Cardiovascular anomalies are uncommon. This phenotypic variation may have at least two causes: the size of the deleted portion at each end of the X chromosome, and the relative frequency and distribution of 45, X and 46, X, r(X) cell lines in various body tissue

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01980.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01981.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY