Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings

Matthew VanLandingham, Tuan V. Nguyen, Omar A. Abdul-Rahman, Andrew Parent, Jun Zhang

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)467-470
Number of pages4
JournalNeurological Sciences
Volume29
Issue number6
DOIs
StatePublished - 2008

Keywords

  • Genetic locus
  • Hydrocephalus
  • Partial trisomy 9

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health

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