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

Gustavsson, Peter; Schoumans, Jacqueline; Staaf, Johan LU ; Borg, Åke LU ; Nordenskjold, Magnus and Anneren, Goran (2007) In European Journal of Medical Genetics 50(3). p.237-241
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
array CGH, duplication 16q12.1-q22.1, spina bifida
in
European Journal of Medical Genetics
volume
50
issue
3
pages
237 - 241
publisher
Elsevier
external identifiers
  • wos:000247406300009
  • scopus:34249099396
ISSN
1769-7212
DOI
10.1016/j.ejmg.2007.01.004
language
English
LU publication?
yes
id
ad7d8b21-06c9-4fa5-bd0c-1bef0983ab0d (old id 648477)
date added to LUP
2007-12-12 10:52:43
date last changed
2017-09-17 05:05:19
@article{ad7d8b21-06c9-4fa5-bd0c-1bef0983ab0d,
  abstract     = {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.},
  author       = {Gustavsson, Peter and Schoumans, Jacqueline and Staaf, Johan and Borg, Åke and Nordenskjold, Magnus and Anneren, Goran},
  issn         = {1769-7212},
  keyword      = {array CGH,duplication 16q12.1-q22.1,spina bifida},
  language     = {eng},
  number       = {3},
  pages        = {237--241},
  publisher    = {Elsevier},
  series       = {European Journal of Medical Genetics},
  title        = {Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida},
  url          = {http://dx.doi.org/10.1016/j.ejmg.2007.01.004},
  volume       = {50},
  year         = {2007},
}