A Case of Partial Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2) / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 302-305, 2010.
Artigo
em Coreano
| WPRIM
| ID: wpr-131000
ABSTRACT
Trisomy 9 syndrome was first reported by Retheore in 1970 and has been rarely reported. This syndrome consists of partial and complete trisomy 9. It is characterized by growth and mental retardation, craniofacial abnormalities including microcephaly, hypertelorism, prominent nose, deep-set ears and down-slanting palpebral fissures. Congenital heart diseases and congenital dislocations of knee are also common in trisomy 9 syndrome. Here, we report a very rare case of partial trisomy 9 due to maternal balanced translocation t(9;21). He showed craniofacial abnormalities, brain malformation, cardiac defect, hydronephrosis and congenital dislocations of hip and knee joints.
Texto completo:
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Trissomia
/
Cromossomos Humanos Par 9
/
Encéfalo
/
Nariz
/
Anormalidades Craniofaciais
/
Luxações Articulares
/
Orelha
/
Cardiopatias
/
Quadril
/
Hidronefrose
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Ano de publicação:
2010
Tipo de documento:
Artigo
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