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 B12 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.
Celep
F
F
Karadeniz Technical University Faculty of Medicine, Department of Medical Biology, Trabzon, Turkey.
Karagüzel
A
A
Aynaci
F M
FM
Erduran
E
E
D000749:Anemia, Megaloblastic / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D013577:Syndrome; D014806:Vitamin B 12 Deficiency / Q000235:genetics*