摘要:

A 5‐year‐old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiol

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03392.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A 35‐year‐old, rare male pseudohermaphrodite with inguinal hernia, testis, fallopian tube and uterus, symptoms referrable to persistent Mullerian duct syndrome, is described. The patient has a 46,XY karyotype in 50% of metaphases, while the remaining metaphases show premature cnetromeric divisions and hypoploid cou

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03393.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Cytogenetic studies showed 47,XY, + mar in a developmentally retarded child with some features of Prader‐Willi syndrome, and 46,XX in his mother. The marker chromosome showed a single subterminal primary constriction, bisatellites, and two C‐bands. DA/DAPI staining showed two intense bands in the marker chromosome, which most likely was derived from chromosome 15.Intense DA/DAPI fluorescence was also found in one chromosome 13 in the child, and one 13 and one 10 in his mother. The present results confirm the reports of DA/ DAPI heteromorphism in acrocentric chromosomes other than the 15, and demonstrate a pericentric DA/DAPI heteromorphism in chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03394.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03395.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03396.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY