1. Triple X syndrome with rare phenotypic presentation.
- Author
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Jagadeesh S, Jabeen G, Bhat L, Vasikarla M, Suresh A, Seshadri S, and Lata S
- Subjects
- Abnormalities, Multiple diagnostic imaging, Adult, Child, Cleft Lip genetics, Cleft Palate genetics, Female, Humans, Karyotyping, Phenotype, Pregnancy, Ultrasonography, Prenatal, Abnormalities, Multiple genetics, Chromosomes, Human, X genetics, Sex Chromosome Aberrations
- 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.
- Published
- 2008
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