Document Detail

Mosaic double aneuploidy: Down syndrome and XYY.
MedLine Citation:
PMID:  24339550     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
Mayur Parihar; Beena Koshy; Vivi Miriam Srivastava
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian journal of human genetics     Volume:  19     ISSN:  0971-6866     ISO Abbreviation:  Indian J Hum Genet     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-12-16     Completed Date:  2013-12-16     Revised Date:  2013-12-19    
Medline Journal Info:
Nlm Unique ID:  101223637     Medline TA:  Indian J Hum Genet     Country:  India    
Other Details:
Languages:  eng     Pagination:  346-8     Citation Subset:  -    
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