摘要:

AbstractUsing data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), we tested the hypothesis of Carey et al. (Proc Greenwood Genet Cent9:95), (1990) on maternal diabetes and preaxial polydactyly of feet in infants born to diabetic mothers. Our results seem to confirm their suggestion, although the hallucal type of preaxial polydactyly that they described seems to be much less frequent. Nevertheless, a high risk exists (OR = 24.60, P = 0.0004) for preaxial polydactyly of the feet in relation with other types of birth defects or postaxial polydactyly. This analysis shows the importance of clinical observations for epidemiologists, because such observations constitute hypotheses and provide actual issues for study, and clinicians will get epidemiological confirmation for their individual observations and hypotheses.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420502

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

年代:1992

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420503

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on 2 independent lines of evidence suggesting genomic imprinting of a major gene for psoriasis vulgaris. First, the birth weight of children from psoriatics is influenced by the sex of the psoriatic parent. Children from fathers with psoriasis are considerably (270 g) heavier than children from mothers with psoriasis (P<0.004). Second, the disease manifestation (penetrance) depends in part on the sex of the psoriatic parent. Offspring from fathers with psoriasis and male “gene carriers” are significantly (P<0.015 andP<0.007) more often affected than offspring from mothers with psoriasis and female “gene carriers.” Of 91 grandchildren with psoriasis 59 (65%) have an affected grandfather and 32 (35%) a psoriatic grandmother. This deviation from the expected distribution is significant (P<0.04). Genomic imprinting is considered a special case of epigenetic modification. We propose that epigenetic modification. of a major predisposing gene in somatic tissues could cause differences in disease activity of psoriasis and could account for the often unpredictable clinical course the diseas

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420504

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

年代:1992

数据来源: WILEY

摘要:

AbstractEstimates of the Apert syndrome birth prevalence and the mutation rate are reported for Washington State, Nebraska, Denmark, Italy, Spain, Atlanta, and Northern California. Data were pooled to increase the number of Apert births (n = 57) and produce a more stable birth prevalence estimate. Birth prevalence of the Apert syndrome was calculated to be approximately 15.5/1, 000,000 births, which is twice the rate determined in earlier studies. The major reason appears to be incomplete ascertainment in the earlier studies. The similarity of the point estimates and the narrow bounds of the confidence limits in the present study suggest that the birth prevalence of the Apert syndrome over different populations is fairly uniform. The mutation rate was calculated to be 7.8×10−6per gene per generation. Apert syndrome accounts for about 4.5% of all cases of craniosynostosis. The mortality rate appears to be increased compared to that experienced in the general population; however, further study of the problem is necessa

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420505

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

年代:1992

数据来源: WILEY

摘要:

AbstractA 28/12‐year‐old boy with severe growth failure and mental retardation was found to have a maternally derived tandem duplication of the long arm of X chromosome, dup(X) (q13.3→q21.2). Karyotypic interpretation was further confirmed in this patient by a double gene dose for red blood cell phosphoglycerate kinase. DNA replication study showed that the duplicated X chromosome was always late replicating in peripheral blood lymphocytes as well as in skin fibroblasts from the mother. Endocrine studies in the patient demonstrated growth hormone deficiency. Magnetic resonance imaging of the head then disclosed the empty sella syndrome. This appears to be the first report of a dup(Xq) patient associated with a growth hormone deficiency and the empty sella syndrome. We emphasize that duplication of the proximal Xq in males represents another microduplication syndrome (Thode‐Leonard sy

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420506

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on an infant with multiple congenital anomalies, tetralogy of Fallot, and Karyotype 45,X,t(Y;18)(q12;11.2). The infant's anomalies are consistent with a del(18p) syndrome, except for the exceptional severity of the heart defect.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420507

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

年代:1992

数据来源: WILEY

摘要:

AbstractA pilot study was carried out to examine the safety and efficacy of recombinant human growth hormone for growth‐promoting therapy of achondroplasia. The data suggest that the agent in doses used to treat non‐GH‐deficient forms of short stature (0.3 mg/kg/wk) modestly increases overall height velocity in some children with achondroplasia. The effect was seen mainly in children with the lowest growth velocities prior to treatment. No untoward effects were noted. Several questions were raised that require further

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420508

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

年代:1992

数据来源: WILEY

摘要:

AbstractA physical disruption of the Prader‐Willi syndrome (PWS) chromosome region is thought to cause PWS. We describe 2 girls with PWS phenotype, who had unique chromosome 15 abnormalities. The first patient showed mosaicism: 45,XX,t(15;15)(qter→p11.1::q11.200→ qter)/46,XX,t(15;15)(qter → p11.1::q11.200→ qter), + mar. The band 15q11.2 apparently remained intact in the t(15;15) chromosome, and the mar chromosome was considered as r(15) (p11.1q11.1). The second patient had a karyo‐type of 47,XX,del(15)(q11.200→q11.207), + idic (15)(pter → q11.1::q11.1→pter). The complex breakage and reunion involving the 15q11.2 regions of the father's homologous chromosomes 15 at meiosis appeared to have resulted in the idic(15) and the del(15) chromosomes. These cytogenetic findings suggest that the PWS chromosome region may be localized on the very proximal portio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420509

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe present a 6‐year‐old mentally retarded girl. Chromosome analysis showed an interstitial deletion of chromosome 8; 46,XX,del(8) (pter → p23.1::p21.3 → qter). The proposita had normal activities of glutathione synthetase reductase (GSR) and factor VII. Parental chromosomes were

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420510

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320420511

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

年代:1992

数据来源: WILEY