title: Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.
abstract: We report on a girl with a trisomy 1q42-q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, inv dup(1)(q44q42).ish(dup del 1)(q44q42)(D1S446x2, D1S423x2, tel1q-). The phenotype of the patient is characterized by macrocephaly with prominent forehead, downslanting palpebral fissures, micrognathia, and psychomotor retardation. All these clinical features are the same as observed for the typical trisomy 1q42-qter syndrome. The phenotypic effects of the inversion and the terminal deletion of 1q in addition to the trisomy are discussed here.
authors.affiliation: Dipartimento di Pediatria, Università Federico II, Naples, Italy.
authors.forename: D
authors.initials: D
authors.lastname: De Brasi
authors.forename: E
authors.initials: E
authors.lastname: Rossi
authors.forename: S
authors.initials: S
authors.lastname: Giglio
authors.forename: A
authors.initials: A
authors.lastname: D'Agostino
authors.forename: L
authors.initials: L
authors.lastname: Titomanlio
authors.forename: V
authors.initials: V
authors.lastname: Farina
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy