KABUKI SYNDROME AND TRISOMY 10p


Utine G. E. , ALANAY Y., Aktas D., BODUROĞLU O. K. , Alikasifoglu M., Tuncbilek E.

GENETIC COUNSELING, cilt.19, ss.291-300, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 19 Konu: 3
  • Basım Tarihi: 2008
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.291-300

Özet

Kahuki syndrome and trisomy 10p: Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown Cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalics and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research oil detection of the genetic Cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation. are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical Pictures of Kabuki syndrome and trisomy 10p in these two patients. as well as the previous patients with chromosomal abnormalities, we conclude that chromosome analysis is kill important step in clinical Work-up of patients with Kabuki syndrome.