TITLE

Mosaic double aneuploidy: Down syndrome and XYY

AUTHOR(S)
Parihar, Mayur; Koshy, Beena; Srivastava, Vivi Miriam
PUB. DATE
September 2013
SOURCE
Indian Journal of Human Genetics;Jul-Sep2013, Vol. 19 Issue 3, p346
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish XYY (DXZ1 × 1, ×DYZ1 × 2). Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. This will enable early intervention to provide the adequate supportive care and management.
ACCESSION #
91920291

 

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