Interstitial deletion of chromosome 2 (p23p25) Academic Article uri icon

Overview

MeSH Major

  • Abnormalities, Multiple
  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2
  • Intellectual Disability
  • Microcephaly

abstract

  • We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.

publication date

  • September 15, 1987

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320270325

PubMed ID

  • 3477099

Additional Document Info

start page

  • 701

end page

  • 6

volume

  • 27

number

  • 3