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Research Article Open access CC BY 4.0

Triple X Syndrome with Congenital Anomalies: A Rare Case Report

E. Bahous, S. Saghir, A. Ayad, M. Sellouti, R. Abilkassim, A. Agadr

Asian Journal of Pediatric Research · pp. 1–5 · Published 7 Feb 2023

10.9734/ajpr/2023/v11i2214

Abstract

Triple X syndrome is a relatively common chromosomal abnormality affecting 0.1% of live-born girls. Most of these girls have a normal phenotype and only a few cases have birth defects. The diagnosis of triple X syndrome may never be made because the clinical manifestations are not important to prompt the request for a karyotype. Prenatal diagnosis is often made before advanced maternal age. Parents of triple X children should be counseled regarding the significance of this syndrome and its prognosis. We report a case of triple X syndrome diagnosed in a five-day-old female newborn, with facial asymmetry, a palpebral coloboma and bilateral auricular appendages, the diagnosis was established by cytogenetic study on a constitutional karyotype which showed profile 47, XXX. Informed parental consent is required.

Palpebral coloboma auricular appendages newborn female prenatal diagnosis 47, XXX

References (7)

  1. 1 Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders [DOI]
  2. 2 Psychosocial competence of unselected young adults with sex chromosome abnormalities [DOI]
  3. 3 Tall Stature as Presenting Symptom in a Girl with Triple X Syndrome [DOI]
  4. 4 Triple X syndrome with rare phenotypic presentation [DOI]
  5. 5 [Triple X syndrome deviation with mild symptoms. The majority goes undiagnosed].
  6. 6 Prenatal diagnosis of 47,XXX [DOI]
  7. 7 Assessment of Academic Achievement [DOI]

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