ISSN:0148-7299    

DOI:10.1002/ajmg.1320070202

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe describe a sporadic case and four sibs from a consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures with a crouched stance; a flat, sad, motionless facial appearance; and cleft palate. Males had small penis and scrotum and cryptorchidism; females had apparent aplasia of labia majora and small clitoris. Skeletal anomalies included fusion of cervical vertebrae, scoliosis, flexion contractures of fingers and “rocker‐bottom” feet with vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination in others, and sporadic occur

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070203

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

年代:1980

数据来源: WILEY

摘要:

AbstractHere I review briefly some terms appropriate to the formal discussion of the genetics of disease. The motive for writing is that at least three kinds of participating experts are involved: pathologists, geneticists, and statisticians. Not only may some of the terms used in one field be unfamiliar to experts from another, the same term may be used in diverse ways among, or even within, fields. Such ambiguity may create illusory understanding or even frank confusion.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070204

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe describe a 22‐year‐old woman with primary amenorrhea, bilateral gonadoblastomas, and short stature (148.0 cm), but no other signs of the Ullrich‐Turner syndrome. There were three cell lines identified in peripheral blood lymphocytes – 45,X (30%), 46,XY (60%), and 46,X,tan dic(Y) (10%). Cells cultured from gonadal biopsies showed only the 45,X karyotype. However, frozen sections of the biopsies showed frequent single and rare double‐Y‐chromatin bodies. Lymphocytes were H‐Y antigen‐negative.This previously undescribed structurally abnormal chromosome probably consists of two Y chromosomes attached end‐to‐end in a tandem translocation. One of the centromeres forms the primary (functional) constriction, the other being detectable only as C‐positive material on each chromatid, so presumably inactive. The discrepancy between the presence of Y‐chromatin in frozen sections of the gonads and its absence from karyotype in gonadal cultures is indicative of cell selection in tissue culture. Finally, the case confirms the high risk of gonadoblastoma in women with a Y chromosome, even in the

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070205

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

年代:1980

数据来源: WILEY

摘要:

AbstractTwo unrelated children with a similar syndrome were found to have mosaicism for a cell line containing one chromosome 12 with an additional faintly G‐banding staining region that apparently represents a duplication of the distal portion of the long arm. The homolog and the other chromosomes are normal, as are the parental chromosomes. The remarkable phenotypic similarity of the 2 patients and their resemblance to 2 previously reported patients with duplication of the same chromosome region suggests that duplication 12q24 results in a clinically identifiable malformation syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070206

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

年代:1980

数据来源: WILEY

摘要:

AbstractSerum and/or plasma samples from 360 Whites and 126 Blacks were assayed for activity of the lysosomal hydrolase α‐N‐acetyl‐D‐glucosaminidase (NAG). The samples from the Blacks had an increased mean (0.50 nm/ml/min) and standard deviation (0.30 nm/ml/min) compared to those from the Whites (0.29 nm/ml/min and 0.10 nm/ml/min, respectively). After logetransformation and admixture analysis, it was possible to demonstrate the presence of 3 distributions of NAG activity in Blacks and at least 2 in Whites. Segregation analysis of the NAG activity of 29 White half‐sib twin families indicated that a genetic model for the inheritance of NAG activity provided a better fit (P<0.01) with the data than the “environmental” model. Thus, the study suggests the presence of a genetic polymorphism for NAG activity in BlackandWhite populations. The presence of alleles for high and low NAG activity in the normal population could lead to incorrect interpretation of serum carrier tests for Sanfilippo sy

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070207

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

年代:1980

数据来源: WILEY

摘要:

AbstractEmploying standardized cell‐culture methods, 10 euploid and 22 constitutionally aneuploid human skin fibroblast strains were assessed in triplicate for total growth potential, growth rates, population‐doubling times, and cloning. In addition, longitudinal growth rate studies were carried out with otherwise isogenic 45,X and 47,XXX clonal cultures derived from a mosaic parental strain. Growth rates and longevities were cell‐strain specific and highly reproducible among sister cultures of a given strain. There was no systematic correlation between chromosome constitution and any of the measured growth parameters. Trisomic as well as monosomic strains showed the same degree ofvariability with respect to these parameters as did euploid cultures. In particular, 4 trisomy 21 strains were not unusually short‐lived, nor were clones with the 47,XXX constitution compared to those with 45,X karyotypes.We therefore conclude that the cumulative number of in vitro doublings preceding senescence of fibroblast‐like cells cultured from skin does not differ significantly among cultures derived from humans who have a normal karyotype, trisomy 13, 18, or 21, the 45,X constitution, or various combinations of extra X and Y ch

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070208

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

年代:1980

数据来源: WILEY

摘要:

AbstractAn autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial appearance is now recognized as the Dubowitz syndrome. Five addition additional cases of the Dubowitz syndrome are reported, including 2 with documented vascular abnormalities.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070209

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

年代:1980

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070210

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

年代:1980

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320070211

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

年代:1980

数据来源: WILEY