A

 

ATR-X sendromu (alpha thalassemia/mental retardation,

X-linked)

Kalıtsal - XLD

Thalassemia bulguları

Mikrosefali

Garip yüz yapısı

Hipertelorizm

Frontal sinus agenezi

Epikantus

Yayvan burun kökü

Yüz hipoplazisi (orta bölüm)

Alt dudak sarkık

Balık ağzı görünümü

Makroglossi

Maloklüzyon

Umblikal herniler

Hidronefroz

Gelişme geriliği

İskelet sistemi anomalileri

Erkeklerde genital anomaliler

Hipotoni

Beyinde hipoplazi alanları

Zeka geriliği

Önemli fenotip: Smith-Fineman-Myers sendromu

 

  • Villard L, Fontes M, Ades  C, Gecz J. Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. Letter. American Journal of Medical Genetics, 91: 83-85, 2000

  • Gibbons RJ, Higgs DR. Molecular-clinical spectrum of the ATR-X syndrome. American Journal of Medical Genetics, 97: 204-212, 2000

  • Villard L, Fontes M. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). European Journal of Human Genetics, 10:223–225, 2002

  • Wada T, Sugie H, Fukushima Y, Saitoh S. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. American Journal of Medical Genetics A, 138:18–20, 2005

  • Thienpont B, de Ravel T, Van Esch H, et al. Partial duplications of the ATRX gene cause the ATR-X syndrome. European Journal of Human Genetics, 15:1094–1097, 2007

  • Stevenson RE, Schwartz CE, Rogers RC. Atlas of X-Linked Intellectual Disability Syndromes. 2 ed., Oxford University Press, UK, 2012

  • Shimbo H, Ninomiya S, Kurosawa K, Wada T. A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX. Journal of Human Genetics, 59:408–410, 2014