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

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.