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 for 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.
Original language | English |
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Pages (from-to) | 367-368 |
Number of pages | 2 |
Journal | Human Genetics |
Volume | 105 |
Issue number | 4 |
DOIs | |
Publication status | Published - 1999 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics