Phenotypical characterization of 13q deletion syndrome: Report of two cases.
Indian J Hum Genet
;
2014 Apr-Jun ; 20 (2): 203-205
Artigo
em Inglês
| IMSEAR
| ID: sea-156663
ABSTRACT
Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33‑q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.
Texto completo:
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Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Anormalidades Múltiplas
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Cromossomos Humanos Par 13
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Feminino
/
Humanos
/
Masculino
/
Criança
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Pré-Escolar
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Deleção Cromossômica
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Transtornos Cromossômicos
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2014
Tipo de documento:
Artigo
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