摘要:

The Holt‐Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt‐Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03021.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We performed genetic analysis for carrier detection for several at‐risk females in a four‐generation Duchenne muscular dystrophy (DMD) pedigree using deletion analysis. We demonstrated that dosage analysis is a suitable alternative method to determine the carrier status of female relatives of DMD patients shown to have a deletion within the DMD gene. Subsequently, we diagnosed an affected male fetus for an at‐risk female shown to be a DMD carrier by deletion analysis. The usefulness of deletion and linkage analysis are compared. In this family, linkage analysis was complicated by the unavailability of key family members, two recombination events and by previously undisclosed nonpaternity. We found that dosage analysis was more efficient than linkage for carrier evaluation in this f

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03022.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Jarcho‐Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the thoracic cage, leading to respiratory failure and early death. There are often associated dysmorphic features. The disease is more frequent in Puerto Ricans and rare in Europe. A Sicilian family with four affected individuals in two interrelated sibships is reporte

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03023.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We have examined the association between variation at the apolipoprotein (apo) B gene and apo AI‐CIII‐AIV gene cluster and within‐individual variation in serum cholesterol levels. Annual measurements were available over a period of 5–10 years in a group of 117 male patients with peripheral arterial disease. The overall within‐individual coefficient of variation in cholesterol levels over time was 13.9%. For all patients, Restriction Fragment Length Polymorphism (RFLP) genotype at the apo B gene (Xbal and EcoRI) and apo AI‐CIII‐AIV gene cluster (XmnI, PstI and PvuII‐CIII) had previously been determined. At the apo B locus, individuals heterozygous for either the Xbal or EcoRI RFLP showed significantly greater within‐individual variability over time compared to individuals of other genotypes. At the apo AI‐CIII‐AIV gene cluster, individuals homozygous for the common allele of either the PstI or PvuIIA RFLPs showed the greatest within‐individual variability over time but there was no difference in this estimate associated with XmnI genotype. Our observations suggest that variation at both the apo B and apo AI‐CIII‐AIV loci interacts with unidentified environmental factors to determine individual variability in serum c

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03024.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

A family is described in which two brothers have spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy. This report provides further evidence to support the previous suggestion that this triad of manifestations represents a specific single‐gene disorder, designated Boucher‐Neuhäuser syndrome. Analysis of affected individuals shows that neurological signs usually develop during adolescence or young adulthood (range: early childhood‐fourth decade) and are slowly progressive or non‐progressive, whereas ophthalmologic manifestations have an age of onset which varies from the first to the sixth decade of life and a pronounced variability in pro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03025.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Two cloned DNA fragments, one derived from an alpha satellite subfamily common to chromosomes 13 and 21, and the other derived from a similar subfamily common to chromosomes 14 and 22, have been used as biotinylated probes inin situhybridization studies. Under high stringency conditions, chromosome specific centromeric labelling can be obtained. The applications of this technique in clinical situations are illustrated on metaphases from a fetus with trisomy 21, a fetus with trisomy 13, and a child with clinical features of cat‐eye syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03026.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We describe 14 patients, from 11 families, who have a progressive encephalopathy with early onset. The clinical signs of the disease are severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperrcflexia, transient or persistent edema, and optic atrophy. These findings and the characteristic dysmorphic features allow recognition of these patients, although no basic metabolic defect has been found. Microcephaly and atrophy of the brain develop, especially in the cerebellar and brain stem areas. An autosomal recessive mode of inheritance is likely.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03027.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

A case of Prader‐Willi syndrome is presented in which high resolution chromosome analysis revealed not only a familial Robertsonian translocation (t(13q15q)], but also a del (15) (q11.2q13) of the chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving chromosome 15 in patients with Prader‐Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03028.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Two sibs with Beemer type short rib syndrome, one of them diagnosedin utero, are reported. Both patients had previously unreported additional abnormalities such as pyloric stenosis and short bowels. Dysplasia of pancreatic Langerhans cells was present in one sib.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03029.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for ΔF508. This mutation was found to be significantly less frequent than in the severe form of the disease

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03030.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY