title: Neonatal presentation of chromosome 9q33.2-q34.3 duplication.
abstract: Partial terminal duplication of chromosome 9 is a rare anomaly that is known to be associated with specific dysmorphic features. While having common characteristics, these patients also have inconsistent phenotypic features. These inconsistent features may be attributed to the length and the region of the duplicated segment of chromosome 9. We discuss a case of an infant with similar physical features to those previously reported including dysmorphology of the craniofacial region, hands and feet. However we also describe findings of malrotation and renal anomalies. Microarray demonstrated duplication of 9q33.2-q34.3 with normal parental karyotyping. This is the first reported case of duplication of this specific region of chromosome 9q and the phenotypic presentation represents a new constellation of clinical findings.
authors.affiliation: Monash Newborn, Monash Children's, Melbourne, Australia.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Moody
authors.forename: Sam E
authors.initials: SE
authors.lastname: Athikarisamy
authors.forename: Alison
authors.initials: A
authors.lastname: Yeung
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.forename: Atul
authors.initials: A
authors.lastname: Malhotra
mesh_terms: D058674:Chromosome Duplication; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis
keywords: DNA; Deoxyribonucleic acid; GH; Growth hormone; Hydronephrosis; IQ; Intelligence quotient; Malrotation; PUJ; Partial duplication 9q; Pelviureteric junction; UCSC; University of California, Santa Cruz; VCGS; Victorian Clinical Genetics Service