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, ss.248-250, 1996 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 50 Konu: 4
  • Basım Tarihi: 1996
  • Dergi Adı: CLINICAL GENETICS
  • Sayfa Sayıları: ss.248-250

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.