Deletion of 2p: a cytogenetic and clinical update

Am J Med Genet. 1987 Jul;27(3):707-10. doi: 10.1002/ajmg.1320270326.

Abstract

The locus for acid phosphatase (ACP1) had been alternately assigned to two conflicting regions on the short arm of chromosome 2. We present a clinical and cytogenetic report of one patient who has an interstitial deletion of 2, del(2) (p23p25.1), and a cytogenetic study of another cell line with an interstitial deletion of 2p (p23.1p25.1). Because both patients are heterozygotes for ACP1, the assignment of ACP1 to 2p25.1----pter is supported.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Acid Phosphatase / blood
  • Acid Phosphatase / genetics*
  • Child
  • Chromosome Aberrations / enzymology
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / ultrastructure*
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Microcephaly / genetics*
  • Seizures / genetics

Substances

  • Genetic Markers
  • Acid Phosphatase