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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.
Clinical Genetics – Wiley
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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