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J Craniofac Surg. 2010 Sep;21(5):1376-9. doi: 10.1097/SCS.0b013e3181ef2bbf.

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

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  • 1Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, USA.


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.

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