X/Y translocation in a family with Leri-Weill dyschondrosteosis

Authors
Calabrese, G Fischetto, R Stuppia, L Capodiferro, F Mingarelli, R Causio, F Rocchi, M Rappold, GA Palka, G
Citation
G. Calabrese et al., X/Y translocation in a family with Leri-Weill dyschondrosteosis, HUM GENET, 105(4), 1999, pp. 367-368
Citations number
5
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717 → ACNP
Volume
105
Issue
4
Year of publication
1999
Pages
367 - 368
Database
ISI
SICI code
0340-6717(199910)105:4<367:XTIAFW>2.0.ZU;2-5
Abstract
An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes fo r SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband.