The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype

Tekin M., Kavaz A., Berberojiu M., FİTOZ Ö. S., Ekim M., Ocal G., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.130A, sa.3, ss.284-287, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 130A Sayı: 3
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1002/ajmg.a.30291
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.284-287
  • Anahtar Kelimeler: autosomal dominant inheritance, cryptorchidism, KBG syndrome, shortstature, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, MENTAL-RETARDATION, VARIANT
  • Ankara Üniversitesi Adresli: Evet

Özet

We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. (C) 2004 Wiley-Liss, Inc.