Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/648477
- author
- Gustavsson, Peter
; Schoumans, Jacqueline
; Staaf, Johan
LU
; Borg, Åke LU ; Nordenskjold, Magnus and Anneren, Goran
- organization
- publishing date
- 2007
- 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
- 2016-04-01 12:16:34
- date last changed
- 2022-02-11 04:47:53
@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}}, keywords = {{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}}, doi = {{10.1016/j.ejmg.2007.01.004}}, volume = {{50}}, year = {{2007}}, }