Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.
Am J Med Genet A
; 146A(10): 1307-11, 2008 May 15.
Article
em En
| MEDLINE
| ID: mdl-18384146
ABSTRACT
We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 --> 20qter and highlights the relevance of CGH for the detection of such rearrangements.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trissomia
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Cromossomos Humanos Par 20
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Duplicação Gênica
Limite:
Adult
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
França