A new case of deletion 1q42 syndrome

Clin Genet. 1989 Apr;35(4):289-92. doi: 10.1111/j.1399-0004.1989.tb02946.x.

Abstract

We report a 1 8/12-year-old male with a de novo deletion of 1q42. The case is compared with 23 others from the literature. The clinical manifestations of our patient correspond with the phenotype of previous reports.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1*
  • Genitalia, Male / abnormalities
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Microcephaly / genetics
  • Psychomotor Disorders / genetics
  • Syndrome