Clefting in trisomy 9p patients: Genotype-phenotype correlation using microarray comparative genomic hybridization

Angie Jelin, Hazel Perry, Jacob Hogue, Snehlata Oberoi, Philip D. Cotter, Ophir D. Klein

Research output: Contribution to journalArticle

Abstract

Duplication 9p syndrome (partial trisomy 9p) is characterized by craniofacial anomalies, mental retardation, and distal phalangeal hypoplasia. Here, we present a female patient with microcephaly and incomplete bilateral cleft lip and palate, whose initial cytogenetic analysis revealed a de novo trisomy 9p. The patient, now 21 years old, has persistent microcephaly, craniofacial and hand anomalies, history of a seizure disorder, and global mental retardation. Oligonucleotide-based array comparative genomic hybridization was performed and revealed partial trisomy 9p21.1->9pter and a deletion of 9p12.1 to 9p11.2. Our case supports the utility of array comparative genomic hybridization for the precise characterization of chromosomal anomalies and for the ascertainment of genotype-phenotype correlation in patients with partial trisomy 9p.

Original languageEnglish (US)
Pages (from-to)1376-1379
Number of pages4
JournalJournal of Craniofacial Surgery
Volume21
Issue number5
DOIs
StatePublished - Sep 1 2010
Externally publishedYes

Keywords

  • 9p duplication
  • Orofacial cleft
  • array comparative genomic hybridization
  • trisomy 9p

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology

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