A specific syndrome due to deletion of the distal long arm of chromosome 1

Am J Med Genet. 1987 Oct;28(2):371-6. doi: 10.1002/ajmg.1320280215.


We have studied 2 patients with de novo deletion 1 (q42.3----qter): a 5 1/2-year-old boy and an unrelated 1 9/12-year-old girl. The analysis of the phenotype which is now possible in a total of 23 cases shows that the deletion of the terminal 1q leads to a definable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The phenotype is so characteristic that, as a rule, the clinical data should suggest the correct cytogenetic diagnosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1* / ultrastructure
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Syndrome