TY - JOUR
T1 - FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male
AU - Codina-Pascual, M.
AU - Oliver-Bonet, M.
AU - Navarro, J.
AU - Starke, H.
AU - Liehr, T.
AU - Gutiérrez-Mateo, C.
AU - Sánchez-García, J. F.
AU - Arango, O.
AU - Egozcue, J.
AU - Benet, J.
PY - 2004/1/1
Y1 - 2004/1/1
N2 - The most common structural rearrangements of the Y chromosome result in the production of dicentrics. In this work, we analyze an abnormal Y chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. FISH with seven different DNA probes specific for Y chromosome sequences (Y α-satellite, α-satellite III, non-α-satellite centromeric Y, SRY gene, subtelomeric Yp, subtelomeric Yq, and PNA-tel) and CGH analysis were performed. FISH results showed that the abnormal Y chromosome was a dicentric Yq isochromosome and that the breakpoint was distally in band Yp11.32. Lymphocyte chromosomes showed a mosaicism with 46,X,idicY(qter→ p11.32::p11.32→qter) (51.7%), 46,XY (45.6%), and other cell lines (2.7%). In oral interphase cells, the mosaicism was 46,XidicY (62.8%), 46,XY (25.7%), 45,X (6.6%), and others (4.9%). The possible origin of this dicentric Yq isochromosome is discussed. Finally, we compare differences in mosaicism and phenotype among three reported cases with the breakpoint at Yp11.32. © 2004 Wiley-Liss, Inc.
AB - The most common structural rearrangements of the Y chromosome result in the production of dicentrics. In this work, we analyze an abnormal Y chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. FISH with seven different DNA probes specific for Y chromosome sequences (Y α-satellite, α-satellite III, non-α-satellite centromeric Y, SRY gene, subtelomeric Yp, subtelomeric Yq, and PNA-tel) and CGH analysis were performed. FISH results showed that the abnormal Y chromosome was a dicentric Yq isochromosome and that the breakpoint was distally in band Yp11.32. Lymphocyte chromosomes showed a mosaicism with 46,X,idicY(qter→ p11.32::p11.32→qter) (51.7%), 46,XY (45.6%), and other cell lines (2.7%). In oral interphase cells, the mosaicism was 46,XidicY (62.8%), 46,XY (25.7%), 45,X (6.6%), and others (4.9%). The possible origin of this dicentric Yq isochromosome is discussed. Finally, we compare differences in mosaicism and phenotype among three reported cases with the breakpoint at Yp11.32. © 2004 Wiley-Liss, Inc.
KW - Azoospermia
KW - Dicentric Y isochromosome
KW - FISH
KW - Mosaicism
U2 - https://doi.org/10.1002/ajmg.a.30027
DO - https://doi.org/10.1002/ajmg.a.30027
M3 - Article
VL - 127
SP - 302
EP - 306
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
ER -