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

Abstract

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.

Keywords

Congenital heart disease Down syndrome Fluorescent in-situ hybridization Genomic imprinting Trisomy 21 

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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

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