Article
Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2008
Vanlandingham Matthew, Nguyen Tuan V, Abdul-Rahman Omar A, Parent Andrew, Zhang Jun
Abstract excerpt
In this case report, we describe two siblings with a previously unreported partial monosomy 4q and partial trisomy 9q. The sibling karyotypes were determined to be 46,XX,der(4)t(4;9)(q33;q33)pat and 46,XY,der(4)t(4;9)-(q33;q33)pat. The siblings share several common pathological features, including VSD, PDA, low-set ears and digit anomalies as well as features consistent with Pierre-Robin syndrome and...
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