Indian Pediatrics

, Volume 47, Issue 5, pp 429–432

Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome

  • Mamta Muranjan
  • Tejasvi Chaudhari
  • Babu Rao Vundinti
Short Communication

DOI: 10.1007/s13312-010-0078-2

Cite this article as:
Muranjan, M., Chaudhari, T. & Vundinti, B.R. Indian Pediatr (2010) 47: 429. doi:10.1007/s13312-010-0078-2


We compared the frequency of phenotypic features of 40 children with Down syndrome between individuals with a maternally or paternally derived extra chromosome 21, using quantitative FISH for comparing heteromorphisms of the nucleolar organizing region. Parental origin was determined in 90% of families. Hypotonia and craniofacial abnormalities were present in 90% or more individuals, irrespective of parental origin of chromosome 21. Congenital heart defects were more frequent in cases with a maternally derived extra chromosome 21. Imprinted gene(s) may contribute to the development of congenital heart defects in Down syndrome.


Congenital heart diseaseDown syndromeFluorescent in-situ hybridizationGenomic imprintingTrisomy 21

Copyright information

© Indian Academy of Pediatrics 2010

Authors and Affiliations

  • Mamta Muranjan
    • 1
    • 3
  • Tejasvi Chaudhari
    • 2
  • Babu Rao Vundinti
    • 1
  1. 1.Genetic Clinic, Department of PediatricsKEM HospitalParel, MumbaiIndia
  2. 2.Cytogenetics Division, Institute of ImmunohematologyIndian Council of Medical ResearchMumbaiIndia
  3. 3.Tardeo, MumbaiIndia