Double aneuploidy: A unique case of trisomy 21 with XYY

Authors

  • Abhinav Tiwari
  • Pranay Trivedi
  • Wrunda Sakhare
  • Nohar Singh Thakur
  • G. Malini Chandramohan

DOI:

https://doi.org/10.32677/IJCH.2020.v07.i04.013

Keywords:

Aneuploidy, Dysmorphic features, Hypothyroidism, Intrauterine growth restriction, Trisomy 21

Abstract

The double aneuploidy or two chromosomal abnormalities occurring in an individual are relatively uncommon. It mainly arises due to non-disjunction at either first or second meiotic division. The double aneuploidy 48, XXY, +21 was described for the 1st time in 1959, and the incidence is reported to be 0.4–0.9/10,000 male births. Chromosomal abnormalities are seen in 1–2% of live births. We report a case of newborn with the clinical features of Down’s syndrome, the most common aneuploidy and genetic cause of moderate intellectual disability. Cytogenetic analysis showed karyotype of 48, XYY, + 21. Our case had double aneuploidy (48,
XYY, +21) with congenital heart disease and hypothyroidism.

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Published

2020-04-26

Issue

Vol. 7 No. 4 (2020): April

Section

Case Reports

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

How to Cite

Double aneuploidy: A unique case of trisomy 21 with XYY. (2020). Indian Journal of Child Health, 7(4), 188-189. https://doi.org/10.32677/IJCH.2020.v07.i04.013

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