AN INFANT WITH A MOSAIC 45,X 46,X,PSU DIC(Y) (PTEL-]Q11.2//Q11.2-]PTER) KARYOTYPE AND MIXED GONADAL-DYSGENESIS STUDIED FOR EXTENT OF MOSAICISM IN THE GONADS/

Authors
REDDY KS SULCOVA V HO CK CONNER ED KHURANA A
Citation
Ks. Reddy et al., AN INFANT WITH A MOSAIC 45,X 46,X,PSU DIC(Y) (PTEL-]Q11.2//Q11.2-]PTER) KARYOTYPE AND MIXED GONADAL-DYSGENESIS STUDIED FOR EXTENT OF MOSAICISM IN THE GONADS/, American journal of medical genetics, 66(4), 1996, pp. 441-444
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
66
Issue
4
Year of publication
1996
Pages
441 - 444
Database
ISI
SICI code
0148-7299(1996)66:4<441:AIWAM4>2.0.ZU;2-B
Abstract
An infant with mixed gonadal dysgenesis was found to have a 45,X/46,ps u dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts . The dicentric nature of the Y chromosome became apparent in fluoresc ence in situ hybridization studies. The presence of Y centromeric Sequ ences was demonstrated in the paraffin-embedded testis and streak ovar y sections. The ratio of Y-positive cells was higher in the testis tha n in the streak ovary. (C) 1996 Wiley-Liss, Inc.