A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome

CELEP F., KARAGUZEL A., AYNACI F., Erduran E.

CLINICAL GENETICS, cilt.50, sa.4, ss.248-250, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 4
  • Basım Tarihi: 1996
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.248-250
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B-12 malabsorption (Imerslund-Grasbeck syndrome) and del (21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature.