Monosomy 16q: a distinct syndrome. Apropos of a de novo del(16) (q2100q2300)

Clin Genet. 1985 Jul;28(1):84-6. doi: 10.1111/j.1399-0004.1985.tb01223.x.


A 2-month-old boy with delayed growth and development, brachycephaly, large anterior fontanelle, low-set folded ears, micrognathia, aortic coarctation, floppy abdominal muscles, and pes varus, was found to have a 46,XY,del(16)(q2100q2300) de novo karyotype. This observation corroborates both the distinctness of the 16q monosomy syndrome and the pathogenetic role of the band 16q21.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, 16-18*
  • Growth Disorders / genetics
  • Humans
  • Infant
  • Male
  • Monosomy*
  • Syndrome