Triple X syndrome with rare phenotypic presentation

Indian J Pediatr. 2008 Jun;75(6):629-31. doi: 10.1007/s12098-008-0120-8. Epub 2008 Aug 31.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Chromosomes, Human, X / genetics*
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Female
  • Humans
  • Karyotyping
  • Phenotype
  • Pregnancy
  • Sex Chromosome Aberrations*
  • Ultrasonography, Prenatal