Trisomy 19 q

Ann Genet. 1976 Mar;19(1):17-21.


Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, 19-20*
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pedigree
  • Respiratory System Abnormalities
  • Seizures / congenital
  • Thumb / abnormalities
  • Trisomy*