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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida

Author

  • Peter Gustavsson
  • Jacqueline Schoumans
  • Johan Staaf
  • Åke Borg
  • Magnus Nordenskjold
  • Goran Anneren

Summary, in English

We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q 12.1 -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 19.8 Mb 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;q12.1 q22.1). We present here the clinical findings and a fine mapping of the associated structural chromosome abnormalities. We suggest that a gene dosage imbalance of 16q111-q22.1 is associated with spina bifida in the patient. (c) 2007 Elsevier Masson SAS. All rights reserved.

Department/s

  • Breastcancer-genetics

Publishing year

2007

Language

English

Pages

237-241

Publication/Series

European Journal of Medical Genetics

Volume

50

Issue

3

Document type

Journal article

Publisher

Elsevier

Topic

  • Cancer and Oncology

Keywords

  • array CGH
  • duplication 16q12.1-q22.1
  • spina bifida

Status

Published

ISBN/ISSN/Other

  • ISSN: 1769-7212