Dergiler / The Journal of Pediatric Research / 2018 / Cilt: 5 - Sayı: 2

Triple X Syndrome with a Rare Finding: Cleft Palate

Sayfa
100–102
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

By describing this case, we want to draw attention to the association between cleft palateand Triple X syndrome.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Triple X syndrome (trisomy X) is a sex chromosomal anomaly caused by the presence of an extra X chromosome.
📊
Temel Bulgular & Veri:The patients with Triple X syndromehave a wide range of phenotypic variability.
💡
Sonuç & Katkı:By describing this case, we want to draw attention to the association between cleft palateand Triple X syndrome.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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 syndromehave a wide range of phenotypic variability. Some individuals are only mildly affected or asymptomatic. Epicanthal folds, clinodactyly, tall stature andhypotonia 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 palateand Triple X syndrome.

🔖

Bu Makaleye Atıf Yap

GÜRKAŞ, E., GENÇ, H. M., KILIÇ, E. (2018). Triple X Syndrome with a Rare Finding: Cleft Palate. The Journal of Pediatric Research, Cilt: 5 - Sayı: 2, 100–102. https://ajindex.com/articles/362914

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (8)

  1. Jacobs P, Baikie AG, Brown WM, Macgregor TN, Maclean N, Harnden DG. Evidence for the existence of the human “superfemale”. Lancet 1959;2:423-5.
  2. Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis 2010;5:8. Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet 2010;18:265-71.
  3. Jagadeesh S, Jabeen G, Bhat L, et al. Triple X syndrome with rare phenotypic presentation. Indian J Pediatr 2008;75:629-31.
  4. Grosso S, Farnetani MA, Di Bartolo RM, et al. Electroencephalographic and epileptic patterns in X chromosome anomalies. J Clin Neurophysiol 2004;21:249-53.
  5. Kohli SS, Kohli VS. A comprehensive review of the genetic basis of cleft lip and palate. J Oral Maxillofac Pathol 2012;16:64-72.
  6. Migeon BR, Pappas K, Stetten G, Trunca C, Jacobs PA. X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X. Eur J Hum Genet 2008;16:153-62.
  7. Fryns JP, Kleczkowska A, Petit P, van den Berghe H. X-chromosome polysomy in the female: personal experience and review of the literature. Clin Genet 1983;23:341-9.
  8. Ramaekers P, Loeys B, von Lowtzow C, et al. Bladder exstrophyepispadias complex and triple-X syndrome: incidental finding or causality? Birth Defects Res A Clin Mol Teratol 2014;100:797- 800.