Ontology highlight
ABSTRACT:
SUBMITTER: Stuppia L
PROVIDER: S-EPMC1734422 | biostudies-other | 1999 Sep
REPOSITORIES: biostudies-other
Stuppia L L Calabrese G G Borrelli P P Gatta V V Morizio E E Mingarelli R R Di Gilio M C MC Crinò A A Giannotti A A Rappold G A GA Palka G G
Journal of medical genetics 19990901 9
A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis with SHOX and SRY gene probes was carried out. One copy of both SHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence ...[more]