title: Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.
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.
authors: Department of Molecular Medicine and Surgery, Center for Molecular Medicine, L8:02, Karolinska University Hospital, Stockholm, Sweden. peter.gustavsson@ki.se
authors: Peter
authors: P
authors: Gustavsson
authors: Jacqueline
authors: J
authors: Schoumans
authors: Johan
authors: J
authors: Staaf
authors: Ake
authors: A
authors: Borg
authors: Magnus
authors: M
authors: Nordenskjöld
authors: Göran
authors: G
authors: Annerén
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D016135:Spinal Dysraphism / Q000235:genetics*