A CASE-REPORT OF 46,XX,DEL(21)(Q22) DE-NOVO DELETION ASSOCIATED WITH IMERSLUND-GRASBECK SYNDROME

Authors
CELEP F KARAGUZEL A AYNACI FM ERDURAN E
Citation
F. Celep et al., A CASE-REPORT OF 46,XX,DEL(21)(Q22) DE-NOVO DELETION ASSOCIATED WITH IMERSLUND-GRASBECK SYNDROME, Clinical genetics, 50(4), 1996, pp. 248-250
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
50
Issue
4
Year of publication
1996
Pages
248 - 250
Database
ISI
SICI code
0009-9163(1996)50:4<248:ACO4DD>2.0.ZU;2-I
Abstract
We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B-12 malabsorption (Imerslund-Grasbeck syn drome) and del (21)(q22). To our knowledge, this is the first observat ion of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature.