MOLECULAR STUDIES IN 3 PATIENTS WITH ISODICENTRIC Y-CHROMOSOME

Authors
STUPPIA L CALABRESE G FRANCHI PG MINGARELLI R MORIZIO E SABATINO G PALKA G
Citation
L. Stuppia et al., MOLECULAR STUDIES IN 3 PATIENTS WITH ISODICENTRIC Y-CHROMOSOME, Human genetics, 98(6), 1996, pp. 691-695
Citations number
30
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
98
Issue
6
Year of publication
1996
Pages
691 - 695
Database
ISI
SICI code
0340-6717(1996)98:6<691:MSI3PW>2.0.ZU;2-3
Abstract
Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship was established between instability of the idic (Y) chromosome and localization of the breakp oint on Yq, and between azoospermia and deletion of interval 6 on Yq.