Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries

Am J Med Genet. 1993 Aug 1;47(1):85-8. doi: 10.1002/ajmg.1320470117.


We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 18*
  • DiGeorge Syndrome / genetics*
  • Female
  • Holoprosencephaly / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotyping
  • Monosomy
  • Ovary / abnormalities*
  • Trisomy