Deletion (2)(q37)

Am J Med Genet. 1994 Jun 1;51(2):153-5. doi: 10.1002/ajmg.1320510215.


We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of Ullrich-Turner syndrome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in peripheral lymphocytes. We compare her findings to those of other reported patients with terminal deletions of 2q.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics*