ISSN:0148-7299    

DOI:10.1002/ajmg.1320310402

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

年代:1988

数据来源: WILEY

摘要:

AbstractA cytogenetic investigation was carried out among 200 mentally retarded boys in Greece for the detection of the fragile X [fra(X)] syndrome. Thirteen patients were found to carry fra(X) (6.5%). Of those, six boys had a history of familial X‐linked mental retardation, two had the phenotype of the Martin‐Bell syndrome, four had only mental retardation of unknown etiology, and one was a mentally retarded patient with Klinefelter syndrome. The remaining 187 boys were fra(X) negative. Our findings emphasize the importance of early identification of this syndrome in the diagnosis and prevention, through proper genetic counselling, of mental retardat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310403

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe a 3‐year‐old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond‐shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted‐V‐shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader‐Willi syndrome, and is likely inherited as an X‐linked recessive trait. Preliminary studies with DNA probes are consistent with an X‐linked locus and permit exclusion of distal Xp and Xq regions as the site o

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310404

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

年代:1988

数据来源: WILEY

摘要:

AbstractThe proportion of sporadic cases among affected males with fragile X‐related mental impairment was reinvestigated in a new sample of family data and compared to previous studies. It was found that the estimate has increased over time from 0 in the original study to 0.24 in the present study. This difference indicated that the correction used for the ascertainment of families in the original study may not have been adequate and that the suggestion that all mothers of affected males are obligate carriers may be wrong. Based on this new information, recurrence risks for relatives in a family with an isolated case of the fragile X or Martin‐Bell syndrome were calculated under different assumptions in order to investigate the effect the effect of (1) the knowledge of the phenotype of ancestors of the proband, (2) the dependence of expression of the mutation on the sex of the carrier parent, (3) the value of the penetrance of mental impairment (MI), and (4) the equality of mutation rates in egg and sperm. The assumptions made for modelling the mutational process had the greatest effect on the recurrence risk in sibs of an isolated case, whereas small differences in penetrance parameters and assumptions based on whether the ancestors were known to be normal or of unknown phenotype made little difference. Recurrence risks for the sibs and first cousins of an isolated case calculated under different assumptions are presen

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310405

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X—fra (X), or Martin‐Bell—syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expre

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310406

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

年代:1988

数据来源: WILEY

摘要:

AbstractEarly simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal diagnosis were undertaken for the first time in a 17‐week gestation fetus at risk for the fragile X [fra (X)] syndrome. Metaphase spreads from 300 fetal lymphocytes were examined within 5 days following PUBS, while approximately 5 weeks were required for the analysis of 148 amniocytes. The chromosomes were interpreted as normal (46,XX) and the fetus as fragile X‐negative at the time of prenatal diagnosis. This was cytogenetically confirmed after delivery of a healthy term female infant. Our results suggest that early PUBS may become a useful adjunct to amniocentesis because of shorter culture time and earlier diagno

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310407

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe report on an 81½‐year‐old white girl with fra (X) syndrome; she had mental deficiency, hyperactivity, speech disturbances, slightly prominent ears, mild joint laxity and 20% fra (X) expression. Additional findings include idiopathic precocious puberty and a right ovarian cyst. Ovarian cysts have been reported previously in heterozygous females, but to our knowledge idiopathic precocious puberty is a new finding in this syndrome. Whether precocious puberty is a coincidental finding in this patient or a previously unreported manifestation of the fra (X) syndrome is not c

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310408

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

年代:1988

数据来源: WILEY

摘要:

AbstractCytogenetic studies on a woman with primary amenorrhea showed an X;15 translocation, karyotype 46,X,t(X;15)(q21;q23). Fifteen percent of the buccal cells showed a normal‐sized sex chromatin body. The normal X chromosome was uniformly inactivated. Many balanced X;15 translocations have been reported; however, breakpoints in our patient differ from those reported previously. This case also supports earlier evidence that ovarian development fails when the breakpoint of the X chromosome is in the region X q13‐q25 or q13

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310409

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

年代:1988

数据来源: WILEY

摘要:

AbstractHere we describe a 12‐year‐old boy with finger and toe contractures, obesity, mental retardation, osteoporosis, and genital anomalies. This clinical picture was first described by Urban et al. [1979] and has been designated as “Prader‐Willi habitus, osteoporosis, and hand contractures.” To our knowledge, our patient represents the second report of this

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310410

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

年代:1988

数据来源: WILEY

摘要:

AbstractGreig cephalopolysyndactyly syndrome is an autosomal dominant form of complex polydactyly in man. Attention is called to the evidence that, on both morphological and comparative gene mapping grounds, this defect is homologous toXt‐extra toes in the mouse. The pattern of polydactyly in both species is very similar. In addition, both conditions probably map close to the T‐cell receptor gamma polypeptide at 13 A2–3 in mouse and 7p15 in h

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310411

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

年代:1988

数据来源: WILEY