Triple X Syndrome with a Rare Finding: Cleft Palate


GÜRKAŞ E., MARAŞ GENÇ H., KILIÇ E.

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, 2018 (ESCI) identifier identifier

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 5
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.32154
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • İstanbul Üniversitesi Adresli: Hayır

Özet

Triple X syndrome (trisomy X) is a sex chromosomal anomaly caused by the presence of an extra X chromosome. The patients with Triple X syndrome have a wide range of phenotypic variability. Some individuals are only mildly affected or asymptomatic. Epicanthal folds, clinodactyly, tall stature and hypotonia are the most commom phenotypic features. Patients also may have seizures, genitourinary abnormalities and premature ovarian failure. We report a patient with Triple X syndrome and cleft palate. By describing this case, we want to draw attention to the association between cleft palate arid Triple X syndrome.