Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization.
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.
Jelin
Angie
A
Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, USA.
Perry
Hazel
H
Hogue
Jacob
J
Oberoi
Snehlata
S
Cotter
Philip D
PD
Klein
Ophir D
OD
D000015:Abnormalities, Multiple / Q000235:genetics / Q000601:surgery; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D002971:Cleft Lip / Q000235:genetics* / Q000601:surgery; D002972:Cleft Palate / Q000235:genetics* / Q000601:surgery; D055028:Comparative Genomic Hybridization; D005260:Female; D005838:Genotype; D006801:Humans; D046228:Microarray Analysis; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D055815:Young Adult