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Updated: Jun 23, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array
C L Mercer1, C E Browne, J C K Barber
1Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Southampton, UK. catherine.mercer@suht.swest.nhs.uk
Abstract:
We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of bands 2q12.3 to 2q13, with inversion of the central segment, which arose de novo from a paternal interchomosomal event. The triplication contains 68 known genes within the 7.28 Mb of DNA between base pairs 107,140,721 and 114,416,131. All intrachromosomal triplications are rare and, while partial duplications of 2q have been previously described, this patient is a unique surviving case of a triplication of proximal 2q.
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