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

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.

• Authors: Angie Jelin, Hazel Perry, Jacob Hogue, Snehlata Oberoi, Philip D Cotter, Ophir D Klein
• Journal: The Journal of craniofacial surgery (J Craniofac Surg) Vol. 21 Issue 5 Pg. 1376-9 (Sep 2010) ISSN: 1536-3732 [Electronic] United States
• PMID: 20856024 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics, surgery)
• Chromosome Aberrations
• Chromosomes, Human, Pair 9
• Cleft Lip (genetics, surgery)
• Cleft Palate (genetics, surgery)
• Comparative Genomic Hybridization
• Female
• Genotype
• Humans
• Microarray Analysis
• Microcephaly (genetics)
• Phenotype
• Young Adult