ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01228.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The present investigation deals with a population chromosomal survey for autosomal fragile sites under conditions of folate deprivation in 405 mental retardates. A total of 13 ascertainments of folate sensitive autosomal fragile sites is observed, of which 10q23 fragility appears to be the most frequent. Further cytogenetic studies of normal and retarded individuals are required to help elucidate the possible phenotypic effect of these autosomal sites and mental retardation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01229.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The results of an extremely detailed cytogenetic analysis on 100 spontaneous abortions occurring in the Aberdeen area over a 3 year period is presented. A comparison with other published series reveals that there is a higher culture success rate (93%) accompanied by a lower incidence of trisomy and a higher incidence of triploidy, although the percentage of chromosomally abnormal foetuses in first trimester abortions is comparable with other studies. However, these apparent discrepancies can largely be explained on the basis of gestational age and sampling variation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01230.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

This study is based on the processing of 115 samples of pure chorion. The different types of colony morphology, together with cytogenetic analysis, indicate the predisposition of chorion cells to artefacts of culture. Chorion survives longer than other foetal tissues and can be cultured when those are dead or contaminated (e.g. in macerated foetuses and missed abortions) making it a suitable and popular tissue for cytogenetic purposes. However, our results indicate that it is slow in culture and prone to chromosome variation so that pseudomosaicism frequently arises and may lead to misdiagnosis. We therefore suggest that cytogenetic analysis of spontaneous abortion material is interpreted with caution in cases where chorion is the only tissue cultured, especially when mosaicism is found.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01231.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Lymphoblastoid cell lines have been established from nine female patients with Duchenne muscular dystrophy who had previously been reported to have chromosome translocations with breakpoints in the Xp21 region. A detailed cytogenetic comparison of prometaphase chromosomes in these cell lines revealed that six of the translocations had X chromosome breakpoints in the sub‐band Xp212 and that one further breakpoint could be assigned to either Xp212 or Xp213. These findings confirm and extend previous observations and provide strong evidence for Xp212 as the site of the Duchenne and Becker loci. For the remaining two translocations the simplest explanation for the observed banding pattern is that the X chromosome breakpoint lies a few thousand kilobases away, in the sub‐band Xp211. Other explanations which assume breaks in Xp212 combined with complex local chromosome rearrangements are also presented. It is also possible that the altered banding pattern in these two cases is due to the influence of local sequences on the staining or uncoiling properties of the chroma

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01232.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Chromosome rearrangement is a relatively common finding in cultured amniotic fluid cells. When cytogenetic abnormalities are confined to one cell or cells from a single culture, they are generally assumed to have arisen in culture (pseudomosaicism). To determine whether or not there might be some specificity in chromosome break‐points in balanced translocation multiple cell pseudomosaicism, data has been pooled for 18 cases studied at PDL and 30 cases from the U.S. survey on mosaicism and pseudomosaicism (Hsu&Perlis 1984).Out of a total of 97 break‐points, 87 were assigned to Giemsa‐staining light bands and 12 to Giemsa‐staining dark bands. An excess of break points (29%) were assigned to terminal bands. Two loci appeared to be preferentially involved in rearrangement: 1) six break‐points (4 PDL cases and 2 others) were assigned to band 6p21; the region to which the major histocompatibility complex (HLA) has been assigned; 2) Four break‐points (all PDL cases) were assigned to 13q14, the region associated with the retinoblastoma locus.This preliminary evidence for specific break‐points needs confirmation and long‐term follow‐up information is needed to determine whether or not there is any clinical significance to t

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01233.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A simple method was devised for recording dermatoglyphics in a form suitable for sweat pore counting. Fifteen members of a family with a hypohidrotic X‐linked ectodermal dysplasia made their own hand prints using our method and mailed the results to us for interpretation. The simplicity of the technique also makes it practical to use on new‐born males at risk for the condition, or where dermatoglyphic records are required for other purposes. Preliminary data suggest that patchiness of sweat pore distribution on the fingers and palms may be useful in the discrimination of heterozygo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01234.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In a series of cases collected in most parts of the world, Sanfilippo disease type A is more frequent than type B. Skin biopsies were obtained from Greek patients suspected for Sanfilippo disease and cultured fibroblasts were assayed for both N‐acetyl‐a‐glucosaminidase and sulfami‐dase activity. Eleven patients with Sanfilippo disease were identified. Ten of them were type B and one type A. The 10 patients with type B came from East‐Central Greece and the neighboring areas of Thessaly and Macedonia. Both parents of the type A patient were from the Greek ethnic community of Turkey. It remains unknown whether or not the higher frequency of type B than type A appears only in Greece or if it occurs in other Mediterranean countrie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01235.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia. Another Saudi Arabian girl, the product of a consanguineous union, is described with intrauterine growth retardation, delayed closure of the anterior fontanel, slow motor development, cutis laxa and ligamentous laxity. The syndrome appears to be an autosomal recessive disorder of connective tissue, with male lethality.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01236.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

During the years 1971‐81, we treated 7 girls with clinical features suggestive of Duchenne dystrophy. Muscle weakness developed at 1.5 or at 5–8 years and progressed rapidly. Two girls were in wheel‐chairs in their teens. Muscle atrophy began in the proximal parts of the lower extremities and pseudohypertrophy of the calf occurred in all patients. Serum creatine phosphokinase (CPK) activity was moderately to highly elevated in all cases and EMG showed a moderate to marked myopathic pattern. Chromosomal studies showed normal finding in the five examined. Mental retardation (IQ 37–73) was present in four. Consanguinity was present in 3 out of the 7 cases. Two mothers showed elevated levels of CPK and myopathic patterns on EMG. In addition, one mother had slight muscle weakness at the age of 42 and another had prominent pseudohypertrophy of the calf. Sex‐linked recessive inheritance might be considered here, because carriers of autosomal recessive type never showed elevated levels of CPK or mild myopathic symptoms. The other five of our seven might be cases of autosomal recessive inheritance, because the mothers had normal serum CPK levels and in 2 families there was a cons

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01237.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY