3q29 interstitial microduplication: a new syndrome in a three-generation family.
Am J Med Genet A
; 146A(5): 601-9, 2008 Mar 01.
Article
em En
| MEDLINE
| ID: mdl-18241066
ABSTRACT
Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by non-allelic homologous recombination between regions of low copy repeats present around the breakpoints.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 3
/
Transtornos Cromossômicos
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Infant
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Male
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Middle aged
Idioma:
En
Revista:
Am J Med Genet A
Ano de publicação:
2008
Tipo de documento:
Article