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Updated: Jun 27, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings
Matthew Vanlandingham1, Tuan V Nguyen, Omar A Abdul-Rahman
1Department of Neurosurgery, University of Mississippi Medical Center, 2500 N. State Street, Jackson, MS, 39216-4505, USA.
Abstract:
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 hydrocephalus. We review previously reported phenotypes associated with monosomy 4q and partial trisomy 9q and discuss potential mechanisms for these morphological insults with particular emphasis on neuropathology.
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