title: A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.
abstract: Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q34.3 → qter, which was confirmed by Fluorescence in situ hybridisation (FISH). The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events.
authors.affiliation: Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.
authors.forename: Shalinder
authors.initials: S
authors.lastname: Singh
authors.forename: Fern
authors.initials: F
authors.lastname: Ashton
authors.forename: Renate
authors.initials: R
authors.lastname: Marquis-Nicholson
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Love
authors.forename: Chuan-Ching
authors.initials: CC
authors.lastname: Lan
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
authors.forename: Alice M
authors.initials: AM
authors.lastname: George
authors.forename: Donald R
authors.initials: DR
authors.lastname: Love