Triple X syndrome with rare phenotypic presentation.
Indian J Pediatr
;
2008 Jun; 75(6): 629-31
Artigo
em Inglês
| IMSEAR
| ID: sea-82908
ABSTRACT
Triple X syndrome is a rare numerical chromosomal anomaly, occurring as a result of non dysjunction in meiosis I. Most cases have neurodevelopmental defects and functional problems. We report two cases diagnosed in our centre. The first was a fetus with cleft lip and palate, 47, XXX was identified by Fetal Blood Sampling. The second was a child with multisystem anomaly including cleft lip and palate, whose karyotype also revealed 47, XXX. Though isolated cases of associated abnormalities have been reported there have not been consistent phenotypic changes reported with this condition.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Aberrações dos Cromossomos Sexuais
/
Anormalidades Múltiplas
/
Feminino
/
Humanos
/
Gravidez
/
Criança
/
Ultrassonografia Pré-Natal
/
Fenda Labial
/
Fissura Palatina
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2008
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS