摘要:

AbstractMosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich‐Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed greatvessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractWe report on a boy from a consanguinous marriage who has a unique skeletal dysplasia, marked dwarfism, mild developmental delay, eye abnormalities, and cranofacial and skeletal changes that have not been described previously.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractThree new cases with the Tel Hashomer camptodactyly syndrome have been ascertained in an Arabic family. This report emphasizes some of the manifestations seen in these three relatives. The Tel Hashomer captodactyly syndrome is thought to be a connective tissue disorder of unknown basic defect.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractLymphocytes from patients with Wiskott‐Aldrich syndrome (WAS) were studied (1) with prometaphase G banding to search for minor chromosome anomalies and (2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to have a stable inversion of a large segment of one chromosome 6 that involved the region encoding the major histocompatibility complex (MHC). The anomaly was not present in the patient's parents, nor in three other unrelated patients with WAS, all of whom demonstrated X‐linked inheritance (based on family history). None of the four patients showed an excessive number of breaks or radial exchange figures following exposure to mitomycin C or diepoxybutane. Thus chromosome fragility in WAS was not confirmed by these studies. However, the incidental finding of 6p inversion in a sporadic case of WAS suggests that genetic rearrangement involving the MHC can result in clinical immunodeficiency mimicking

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractA multivariate normal model for pedigree analysis is applied to fasting total serum cholesterol and total serum triglyceride measurements on 771 individuals in 95 pedigrees from Rochester, MN. Univariate and bivariate analyses are carried out to determine to what extent the aggregation and coaggregation in families of these two traits may be attributed to shared genetic and environmental factors. Pedigrees were ascertained through a sample of schoolchildren enriched for those with serum cholesterol levels in the highest and lowest deciles of their age‐ and sex‐specific distributions. Ascertainment is corrected for by conditioning the likelihood on the trait values of the probands.Univariate results confirm the findings of previous studies indicating that familial aggregation of serum cholesterol and triglyceride levels is due both to shared genes and to shared environmental factors. Results of the bivariate analyses suggest that the coaggregation of cholesterol and triglyceride levels in these families is strongly influenced by both shared genes (pleiotropy) and shared environmental factors. These findings are consistent with our understanding of lipid metabolism and of specific environmental factors known to influence both tra

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractIn a clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the, deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromoso

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractSevere osteopetrosis was diagnosedin uteroin two successive pregnancies resulting from an intermarriage. Hydrocephaly and skeletal hyperdensity were detected at 18 weeks of gestation, and fractures at 24 weeks. We report on extensive ultrasound, radiological, and pathological findings, including those on brain and bone. The markedly reduced number of osteoclasts observed in these sibs and the very early fetal involvement suggest that this form of osteopetrosis might represent a new entity: autosomal recessive lethal osteopetrosis.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractThe existence of a rare form of osteogenesis imperfecta, OI type III, has been postulated. This is characertized by autosomal recessive inheritance with neonatal manifestations of bone fragility or deformability. It is usually nonlethal. Studies of some 345 pedigrees of OI in the last 8 years confirm that patients falling into this group are rare. They should be distinguished as a special group within the group of O1 subjects with a progressively deforming O1 phenotype delineated in previous publications [Sillence et al, 1979a, b]. The OI type III phenotype does not necessarily equate with progressively deforming OI, and probably only a proportion of cases with severe deformity and normal scleraehave OI type III. On the other hand, distinction between these patients and those with a milder form of perinatally lethal OI type II might be difficult. Whereas the natural history of skeletal deformity and fractures in patients with OI type III has certain similarities, variable severity between families indicates that OI type III is likely to be genetically heterogeneous.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractThe Oculo‐cerebro‐renal syndrome of Lowe is an X‐linked recessive disorder characterised by mental and growth retardation, renal rickets with renal tubular acidosis, generalised aminoaciduria, hypotonia, cataracts, glaucoma and frontal bossing. Manifestations of this syndrome were seen in a girl with no family history of the disorder, but who was found to have ade novobalanced X/3 translocation, with a breakpoint at Xq25. She had also inherited a balanced 14/17 translocation from her father. It is postulated that the clinical picture may be the result of disruption of the X chromosome within the gene at the locus for Lowe syndrome, with non‐random inactivation of the normal X, which may permit the expression of this X‐linked recessive disorder

ISSN:0148-7299    

DOI:10.1002/ajmg.1320230311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY