Triple X syndrome with rare phenotypic presentation.

doi:10.1007/s12098-008-0120-8

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Article

Triple X syndrome with rare phenotypic presentation.

Indian journal of pediatrics - 1 Jun 2008

Jagadeesh Sujatha, Jabeen Gazala, Bhat Lathaa, Vasikarla Madhavi, Suresh Arvind, Seshadri Suresh, Lata S

Abstract excerpt

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...

Topics

Abnormalities, Multiple
Adult
Child
Chromosomes, Human, X
Cleft Lip
Cleft Palate
Female
Humans
Karyotyping
Phenotype
Pregnancy
Sex Chromosome Aberrations
Ultrasonography, Prenatal

Source

Open in PubMed

Identifiers

PMID: 18759093
DOI: 10.1007/s12098-008-0120-8

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