Åke Borg
Principal investigator
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Author
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