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Double Autosomal Aneuploidy: A Case of Trisomy 18 and 21 Mosaicism in A Neonate with Clinical Down Syndrome

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dc.contributor.authorAliyyah Mohammad Khuzaini
dc.contributor.authorAdilah W. Ab Rahim
dc.contributor.authorLim Yee Shan
dc.contributor.authorFoong Eva
dc.contributor.authorHalimah Abdul Halim
dc.date.accessioned2024-06-16T06:37:27Z
dc.date.available2024-06-16T06:37:27Z
dc.date.issued2024
dc.date.submitted2024-6-11
dc.descriptionMalaysian Journal of Paediatrics and Child Health Vol. 30 No. 1 (page: 37- 43)
dc.description.abstractBackground: Double aneuploidy is the phenomenon where two aneuploidies co-exist in the same individual, usually involving one autosomal chromosome and one sex chromosome. Double autosomal aneuploidy is rare and usually results in spontaneous abortions. There are only six published case reports of liveborn with trisomy 18 and trisomy 21 and all of which involve mosaicism. Case Presentation: This case report documents an infant born at 35 weeks with phenotypic features of Down Syndrome. However, cytogenetic analysis showed a mosaic of both trisomy 18 and 21. The patient initially had patent ductus arteriosus requiring operative closure and has congenital hypothyroidism. Conclusion: We describe five possible pathways leading to this phenomenon, including error during meiosis, meiotic nondisjunction, mitotic nondisjunction, sequential mitotic segregation and chimerism. This case report reiterates the significance of traditional cytogenetic analysis in children with features of Down Syndrome to detect any further abnormalities.
dc.identifier.citationAliyyah Mohammad Khuzaini, Adilah W. Ab Rahim, Lim Yee Shan, Foong Eva, & Halimah Abdul Halim. (2024). Double Autosomal Aneuploidy: A Case of Trisomy 18 and 21 Mosaicism in A Neonate with Clinical Down Syndrome. Malaysian Journal of Paediatrics and Child Health, 30(1), 37–43. https://doi.org/10.51407/mjpch.v30i1.273
dc.identifier.doi10.51407/mjpch.v30i1.273
dc.identifier.epage42
dc.identifier.issn1511-4511
dc.identifier.issue1 (April)
dc.identifier.spage37
dc.identifier.urihttps://mpaeds.my/journals/index.php/MJPCH/article/view/273
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/19995
dc.identifier.volume30
dc.language.isoen_US
dc.publisherMalaysian Paediatric Association
dc.relation.ispartofMalaysian Journal of Paediatrics and Child Health
dc.relation.issn1511-4511
dc.relation.journalMalaysian Journal of Paediatrics and Child Health (MJPCH)
dc.subjectDouble aneuploidy
dc.subjectclinical genetics
dc.subjecttrisomy 18
dc.subjecttrisomy 21
dc.subjectpediatric genetics
dc.titleDouble Autosomal Aneuploidy: A Case of Trisomy 18 and 21 Mosaicism in A Neonate with Clinical Down Syndrome
dc.typetext::journal::journal article::research article
dspace.entity.typePublication
oaire.citation.endPage43
oaire.citation.issue1
oaire.citation.startPage37
oaire.citation.volume30
oairecerif.author.affiliationUniversiti Sains Islam Malaysia
oairecerif.author.affiliationUniversiti Sains Islam Malaysia
oairecerif.author.affiliation#PLACEHOLDER_PARENT_METADATA_VALUE#
oairecerif.author.affiliation#PLACEHOLDER_PARENT_METADATA_VALUE#
oairecerif.author.affiliation#PLACEHOLDER_PARENT_METADATA_VALUE#

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