6q1 monosomy: a distinctive syndrome

Clin Genet. 1988 Jul;34(1):38-42. doi: 10.1111/j.1399-0004.1988.tb02613.x.


A female infant with a de novo del 6q14q16.2 and five other patients with del 6q1 reported in the literature allow the delineation of a characteristic syndrome, the main features of which are: severe mental retardation, a round face with full cheeks, upslanting palpebral fissures, a short neck, umbilical hernia, malpositioned feet with syndactyly II-III, and typical dermatoglyphics with an excess of whorls and clinodactyly of the Vth finger.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Monosomy*
  • Phenotype
  • Syndrome