Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes


Simsek P. O. , ÜTİNE G. E. , ALİKAŞİFOĞLU A., ALANAY Y. , BODUROĞLU O. K. , Kandemir N.

TURKISH JOURNAL OF PEDIATRICS, vol.51, no.3, pp.294-297, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 3
  • Publication Date: 2009
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.294-297

Abstract

49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind in the evaluation of patients with micropenis, mental retardation and accompanying behavioral disturbances. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations.