Double aneuploidy: A unique case of trisomy 21 with XYY

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 b...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of child health 2020-04, Vol.7 (4), p.188-189
Main Authors: Tiwari, Abhinav, Trivedi, Pranay, Sakhare, Wrunda, Thakur, Nohar Singh, Chandramohan, G. Malini
Format: Article
Language:English
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2349-6118
2349-6126
DOI:10.32677/IJCH.2020.v07.i04.013