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

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

Abstract 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.


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


  • ISSN: 1769-7212
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2