摘要:

Two sisters, 11 and 9 years old respectively, had the clinical features of a progressive neurological disorder similar to the ataxia‐telangiectasia (AT) syndrome. The two patients have ataxia and chromosome instability with rearrangements of chromosomes 7 and 14 but no telangiectasia, nor the range of immunological anomalies typical of AT. Comparison with similar cases from the literature leads to the conclusion that either there is a specific disorder characterized by ataxia‐without‐telangiectasia and with the same cytogenetic pattern of AT, or AT shows a wider variability of phenotypic expression than thought b

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02879.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Stimulated human phagocytes produce toxic oxygen radicals which induce sister chromatid exchanges in cultured mammalian cells. Oxidative damage to membranes initiates lipid peroxidation chain reactions and stimulation of the arachidonic acid cascade. The products of these reactions may mediate the genetic toxicity of oxygen radicals. Arachidonic acid significantly augmented the number of sister chromatid exchanges in target cells exposed to stimulated phagocytes. This genetic damage was abrogated in radical‐treated cells preincubated with inhibitors of the cyclooxygenase (indomethacin), lipoxygenase (nordihydroguaiaretic acid) or both (piroxicam) pathway

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02880.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A boy with several dysmorphic features and suffering from mental and motor retardation was found to have ade novointerstitial deletion of chromosome 15, involving bands q13 to q15. His clinical picture is described and compared with the clinical features reported in other deletions of this chromosome, located or extending distally from the region associated with Prader‐Willi syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02881.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

X‐chromosome‐specific DNA probes were used to study a new type of muscular dystrophy (MD) presented by two boys in a family in which there was no previous history of neuromuscular disease. Clinical investigations showed evidence of myogenic myopathyia, but its exact nature could not be established. The results of the DNA analysis exclude DMD, BMD and EMD. We suggest a probable autosomal recessive inheritance for the MD seen in this fam

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02882.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A restriction fragment length polymorphism (RFLP) at the low density lipoprotein receptor (LDLR) locus detectable with the restriction enzyme PvuII exhibits association with total serum cholesterol level. People who are homozygous for absence of the PvuII restriction site have a significantly higher total cholesterol level than heterozygotes (the number of homozygotes for presence of the restriction site was too small to permit meaningful comparison). This difference is significant at the 2% level. Thus, this study of sex‐ and age‐adjusted cholesterol levels in a sample of healthy people yields additional evidence and sustains our previous proposal that normal alleles at the LDLR locus contribute to the population variation in total cholesterol levels. Absence of the PvuII site appears to confer an odds ratio of approximately 2.7 for having a cholesterol level in the top quartile of the population distribut

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02883.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Complex chromosome rearrangements (CCR) involving multiple breaks in two chromosomes are rare. The detection of a four‐break apparently balanced rearrangement involving chromosomes 1 and 3 in a child with developmental delay led us to reanalyse, using prometaphase banding, another complex two‐chromosome rearrangement in a previously reported case (Fitzgerald 1974). The relationship between clinical abnormalities and apparently balanced rearrangements is discus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02884.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

In the present paper we report the first example of fertility in a female with isodicentric X‐formation and karyotype 45,X/46,X,del(X)(pter → p21.3)/46,X,idic(X)(qter →p21.3→p21.3 → qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter → p21.3) karyotype in all exa

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02885.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

We describe a family with clinical features of orofaciodigital (OFD) syndrome type 2 or Mohr syndrome, X‐linked recessive inheritance and survival of affected males which has not previously been reported. Four affected males in three generations have survived into infancy and two female heterozygotes have very mild expression. Foetal ultrasonography enabled antenatal diagnosi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02886.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder. Recent biochemical studies have revealed that amyloid protein in FAP of Japanese, Swedish and Portuguese origin mainly consists of a variant transthyretin (TTR) (formerly called prealbumin) with one amino acid substitution of methionine for valine at position 30. In a 56‐year‐old man with typical polyneuropathy, gastrointestinal problems and vitreous amyloid, we diagnosed homozygosity for the TTR‐met30‐gene using RFLP analysis. In a family study, a sister presented the same homozygous RFLP pattern; however, in a careful clinical investigation we were not able to demonstrate any of the typical symptoms of FAP, nor could we demonstrate amyloid deposits in a biopsy skin specimen. This is the first report of homozygosity for the TTR‐met30‐gene, and it shows that the mutation of the protein involved in amyloid formation may be necessary but is clearly not sufficient for the clinic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02887.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

This study of 55 175 marriages in Turkey, conducted from 1970 to 1987, showed an overall rate of consanguineous marriage of 21.21% (mostly first‐cousin liaisons) and an inbreeding coefficient of 0.0064532. However, considerable differences between areas are apparen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02888.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY