Cytogenetic findings of a child with transcobalamin II deficiency.
Transcobalamin II deficiency is a rare, probably autosomal recessive, inborn error of protein metabolism [Hakami et al., 1971]. Several authors have described the morphological characteristics of bone marrow aspirates from patients with this disorder; no reports have detailed the cytogenetic findings [Hitzig et al., 1974; Hakami et al., 1971; Niebrugge et al., 1982]. We report the cytogenetic findings of the bone marrow aspirates from an infant with transcobalamin II deficiency and identify fragile site expression in the hematopoietic cells in this patient.
Vance
G H
GH
Department of Medical and Molecular Genetics, Indiana University, Indianapolis.
Moncino
M
M
Heerema
N A
NA
D002869:Chromosome Aberrations; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000503:physiopathology; D011506:Proteins / Q000378:metabolism; D014155:Transcobalamins / Q000172:deficiency*
D011506:Proteins; D014155:Transcobalamins