Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male

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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Stuppia, L, Calabrese, G, Borrelli, P, Gatta, V, Morizio, E, Mingarelli, R, Di, G, Crino, A, Giannotti, A, Rappold, G, Palka, G
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 1999
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734422/
https://ncbi.nlm.nih.gov/pubmed/10507731
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky