Cytogenetic findings of a child with transcobalamin II deficiency

G. H. Vance, M. Moncino, N. A. Heerema

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)615-619
Number of pages5
JournalAmerican journal of medical genetics
Volume46
Issue number6
DOIs
StatePublished - Jan 1 1993

Keywords

  • cobalamin
  • folate
  • fragile site
  • megaloblastic anemia
  • transcobalamin II

ASJC Scopus subject areas

  • Genetics(clinical)

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