A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux

Am J Med Genet. 1988 Jan;29(1):43-8. doi: 10.1002/ajmg.1320290106.

Abstract

We present a male infant with r(9) and del(9p) mosaicism and chromosome constitution of 46,XY,r(9) (p22;q34)/46,XY,del(9) (p22). This patient also had gastroesophageal reflux with persistent regurgitation and resultant failure to thrive. The association of this syndrome with gastroesophageal reflux is emphasized.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 9*
  • Face / abnormalities
  • Gastroesophageal Reflux / genetics*
  • Humans
  • Infant
  • Male
  • Mosaicism*
  • Ring Chromosomes*