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Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia

Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype... Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet 1993: 44: 142–145. © Munksgaard, 1993 We describe a girl with virilized external genitalia and phenotypic features of Turner syndrome whose blood karyotype is 45,X. The presence of dysgenetic testicular tissue was confirmed by pathology. Using PCR and primers for the distal long arm, centromere and short arm of the Y chromosome, Y chromosome material was detected in her gonads but not in blood. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia

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References (19)

Publisher
Wiley
Copyright
1993 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1993.tb03865.x
Publisher site
See Article on Publisher Site

Abstract

Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet 1993: 44: 142–145. © Munksgaard, 1993 We describe a girl with virilized external genitalia and phenotypic features of Turner syndrome whose blood karyotype is 45,X. The presence of dysgenetic testicular tissue was confirmed by pathology. Using PCR and primers for the distal long arm, centromere and short arm of the Y chromosome, Y chromosome material was detected in her gonads but not in blood.

Journal

Clinical GeneticsWiley

Published: Sep 1, 1993

Keywords: dysgenetic gonad; polymerase chain reaction; testis-determining-factor; Turner syndrome phenotype; virilized external genitalia; Y chromosome mosaicism

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