A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome
CLINICAL GENETICS, vol.50, no.4, pp.248-250, 1996 (SCI-Expanded, Scopus)
- 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.