Small terminal deletions of the long arm of chromosome 2: two new cases

Am J Med Genet. 1994 Dec 1;53(4):366-9. doi: 10.1002/ajmg.1320530412.


We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 2*
  • Developmental Disabilities / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Phenotype