Ring chromosome 9 in a dysmorphic child

Indian J Pediatr. 2007 May;74(5):507-8. doi: 10.1007/s12098-007-0090-2.

Abstract

Ring chromosome is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. An eight-mth-old boy, presenting with broad and dark eyebrows with protruding tongue, microcephaly, short stature and failure to thrive was found to have ring chromosome 9. 46,X,inv(Y),r(9)(p24q34). This shows that karyotype study is an essential integral investigation in the management of dysmorphic child.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 9*
  • Developmental Disabilities / genetics*
  • Humans
  • Infant
  • Male
  • Ring Chromosomes*