Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
作者： E Morizio , V Gatta , G Palka , G A Rappold , A Giannotti
DOI: 10.1136/JMG.36.9.711
关键词:
摘要: A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis SHOX SRY gene probes was carried out. One copy of both detected in interphase nuclei, clarifying the origin LWD phenotype. Molecular results suggested that arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between short arms X Y chromosomes. As consequence, translocated onto Xp, thereby explaining phenotype patient. second event probably maternal or early stages zygote resulting loss chromosome.
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