Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidDuran, Rıdvan/C-1065-2015
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Emine I.
dc.contributor.authorAtli, Engin
dc.contributor.authorDemir, Selma
dc.contributor.authorCiftdemir, Nukhet A.
dc.contributor.authorDuran, Ridvan
dc.contributor.authorOzdemir, Janset
dc.date.accessioned2024-06-12T10:50:12Z
dc.date.available2024-06-12T10:50:12Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIn this study, we present a case with distal 3p duplication and 22q13.3 deletion due to unbalanced meiotic segregation in her father carrying a balanced translocation. The 2-month-old girl was examined for her severe hypotonia, developmental delay, and mild dysmorphic appearance. Clinical features include broad forehead, hypertelorism, laterally extended eyebrows, long eyelashes, a depressed nasal root, bifid nasal tip, long philtrum, thin lips, posteriorly rotated ears, short neck, partial syndactyly of the right hand (fingers 3, 4) , and partial syndactyly of the right foot (toes 2, 3). After examination, the final karyotype was reported as: 46,XX,der(22)del(22)(qter)dup(3)(p22pter), and the array-CGH results showed arr[GRCh37] 3p26.3p22.1(93949_41518607)x3 and arr[GRCh37] 22q13.31q13.33(44554083_51224252)x1. The mother has a 46,XX karyotype, and her father carries a balanced translocation, 46,XY,t(3;22)(p26.3;q13.3). This is the first case with a distal 3p duplication and 22q13.3 deletion with severe hypotonia and developmental delay.en_US
dc.identifier.doi10.1159/000508646
dc.identifier.endpage169en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85088304091en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage162en_US
dc.identifier.urihttps://doi.org/10.1159/000508646
dc.identifier.urihttps://hdl.handle.net/20.500.14551/17904
dc.identifier.volume11en_US
dc.identifier.wosWOS:000546410900009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject3p Duplicationen_US
dc.subject22q13 Deletionen_US
dc.subjectChromosomal Translocationen_US
dc.subjectHypotoniaen_US
dc.subjectUnbalanced Segregationen_US
dc.subjectSegregationen_US
dc.subjectFeaturesen_US
dc.titleDistal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)en_US
dc.typeArticleen_US

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