A Case of Tetrasomy 12p Diagnosed Prenatally / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
; : 1001-1005, 2004.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-27414
Biblioteca responsável:
WPRO
ABSTRACT
Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Cromossomos Humanos Par 12
/
Linfócitos
/
Aberrações Cromossômicas
/
Poli-Hidrâmnios
/
Ultrassonografia
/
Idade Materna
/
Isocromossomos
/
Diagnóstico
/
Fêmur
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Ano de publicação:
2004
Tipo de documento:
Artigo