Ring chromosome 2: clinical, chromosomal, and biochemical aspects

Hum Genet. 1982;60(1):91-5. doi: 10.1007/BF00281274.


A new case of ring chromosome 2 is described and compared with the five cases hitherto reported. The clinical picture includes a severe pre- and postnatal growth failure, microcephaly, psychomotor retardation, and some minor dysmorphic features. Cytogenetic studies revealed a ring 2 structure and aneuploidy. Banding analysis failed to demonstrate a substantial loss of chromosomal material. Enzymologic studies revealed a decrease of red cell acid phosphatase activity suggesting the localization of its gene inthe 2p25 leads to 2 pter region.

Publication types

  • Case Reports

MeSH terms

  • Acid Phosphatase / genetics
  • Aneuploidy
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, 1-3*
  • Erythrocytes / enzymology
  • Female
  • Growth Disorders / genetics
  • Humans
  • Karyotyping
  • Microcephaly / genetics
  • Psychomotor Disorders / genetics


  • Acid Phosphatase