Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 366-370, 2009.
Artigo
em Inglês
| WPRIM
| ID: wpr-66132
ABSTRACT
Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Estenose da Valva Pulmonar
/
Cromossomos Humanos Par 12
/
Aberrações Cromossômicas
/
Idade Gestacional
/
Hibridização in Situ Fluorescente
/
Disfunção Ventricular Direita
/
Doenças Fetais
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Inglês
Revista:
The Korean Journal of Laboratory Medicine
Ano de publicação:
2009
Tipo de documento:
Artigo
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