Triple X syndrome with rare phenotypic presentation.
Indian J Pediatr
;
2008 Jun; 75(6): 629-31
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Phénotype
/
Aberrations des chromosomes sexuels
/
Malformations multiples
/
Femelle
/
Humains
/
Grossesse
/
Enfant
/
Échographie prénatale
/
Bec-de-lièvre
/
Fente palatine
Type d'étude:
Etude diagnostique
/
Étude pronostique
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2008
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS