Mosaic double aneuploidy: Down syndrome and XYY.

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dc.contributor.authorParihar, Mayur
dc.contributor.authorKoshy, Beena
dc.contributor.authorSrivastava, Vivi Miriam
dc.date.accessioned2015-03-05T06:01:24Z
dc.date.available2015-03-05T06:01:24Z
dc.date.issued2013-07
dc.description.abstractChromosomal 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.en_US
dc.identifier.citationParihar Mayur, Koshy Beena, Srivastava Vivi Miriam. Mosaic double aneuploidy: Down syndrome and XYY. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 346-348.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156589
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=3;spage=346;epage=348;aulast=Pariharen_US
dc.subjectDisorder of sexual developmenten_US
dc.subjectdouble aneuploidyen_US
dc.subjectDown syndrome with XYYen_US
dc.subjectmeiotic non‑disjunctionen_US
dc.subjectmosaicen_US
dc.subject.meshAneuploidy
dc.subject.meshChild, Preschool
dc.subject.meshChromosomes, Human, X --genetics
dc.subject.meshChromosomes, Human, Y --genetics
dc.subject.meshDisorders of Sex Development --genetics
dc.subject.meshDown Syndrome --epidemiology
dc.subject.meshDown Syndrome --genetics
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshSex Chromosome Aberrations
dc.subject.meshSex Chromosome Disorders of Sex Development --genetics
dc.titleMosaic double aneuploidy: Down syndrome and XYY.en_US
dc.typeArticleen_US
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