Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.
Indian J Hum Genet
;
2011 May; 17(2): 111-113
Artigo
em Inglês
| IMSEAR
| ID: sea-138948
ABSTRACT
We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched palate, dental decay and speech disorder. Prenatal diagnosis was carried. Using amniocentesis. The fetus had a normal karyotype described as 46,XX. The fetus was evaluated for clinical features after delivery; she was healthy with no abnormal clinical characterizations.
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Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2011
Tipo de documento:
Artigo
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