Journal of
Medical Genetics and Genomics

  • Abbreviation: J. Med. Genet. Genomics
  • Language: English
  • ISSN: 2141-2278
  • DOI: 10.5897/JMGG
  • Start Year: 2009
  • Published Articles: 48

Full Length Research Paper

Trisomy 21 in children born with anorectal malformation

Ashma Gupta1, A. S. Yadav2*, Minakashee Sharma1 and Ravi Sharma1
1Human Genetic Research Cum Counseling Centre, Government Medical College, University of Jammu, Jammu, India. 2Department of Zoology, Human Cytogenetic Lab, Kurukshetra University, Kurukshetra-136119, India.
Email: [email protected]

  •  Accepted: 01 November 2011
  •  Published: 31 December 2011


Cytogenetic analysis in 24 clinically diagnosed cases of anorectal malformation carried out using GTG banding techniques showed trisomy 21, the chromosomal abnormality of Down syndrome in 4 cases. Of the 4 cases, 3 were male children and 1 was female child and the remaining 21 cases had normal karyotype of a male or female. Four cases as were found possessing the karyotype of Down syndrome were phenotypically not having the clinical symptom of a typical Down syndrome. The study has been carried out for the first time jointly from the states of Haryana and J&K.


Key words: Trisomy 21, anorectal malformation, karyotype.