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, vol.50, no.4, pp.248-250, 1996 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 4
  • Publication Date: 1996
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.248-250
  • Karadeniz Technical University Affiliated: Yes

Abstract

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.