Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome

Am J Med Genet. 1992 Jun 1;43(3):561-4. doi: 10.1002/ajmg.1320430311.


Partial deletion of 16q is rare; to our knowledge only 12 cases have been published. Fryns et al. [Hum Genet 38:343-346, 1977] described the first of these cases and proposed a new clinical entity. Our patient was a girl and had many minor anomalies of the kind often observed in 16q- syndrome. Severe failure to thrive due to emesis and diarrhea were also observed. High resolution banding methods showed that the chromosome constitution of the patient was 46,XX,del(16)(q22.1q22.3). This suggests that 16q22 is critical for the syndrome.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16*
  • Diarrhea, Infantile / genetics
  • Face / abnormalities
  • Female
  • Humans
  • Infant
  • Syndrome