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Updated: Jul 16, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Peter Gustavsson1, Jacqueline Schoumans, Johan Staaf
1Department of Molecular Medicine and Surgery, Center for Molecular Medicine, L8:02, Karolinska University Hospital, Stockholm, Sweden. peter.gustavsson@ki.se
Abstract:
We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q12.1-q22.1. An abnormal karyotype was identified involving the long arm of chromosome 11 and fluorescent in situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. A detailed mapping of the chromosome abnormality using whole genome array based comparative genomic hybridization (CGH) of the patient DNA revealed a duplication 16q12.1-q22.1 corresponding to gain of 19.8Mb of DNA without any detectable loss of genetic material on chromosome 11. The karyotype is defined as 46,XX,der(11)ins(11;16)(q13;q12.1q22.1). We present here the clinical findings and a fine mapping of the associated structural chromosome abnormalities. We suggest that a gene dosage imbalance of 16q12.1-q22.1 is associated with spina bifida in the patient.
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