The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report

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dc.contributor.authorSılan, Fatma
dc.contributor.authorBourouba, Romyla
dc.contributor.authorKarakaya, Taner
dc.contributor.authorYildiz, Onur
dc.contributor.authorPaksoy, Baris
dc.contributor.authorUrfali, Mine
dc.contributor.authorÖzdemir, Öztürk
dc.date.accessioned2025-01-27T18:53:26Z
dc.date.available2025-01-27T18:53:26Z
dc.date.issued2018
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBackground: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. Aim: The objective of this study was to report cytogenetics and molecular characterization of a mental and motor retarded boy with short arm of chromosome 8 rearrangements [invdupdel(8p)] in this current case report. Subjects and methods: We report an 11-year-old boy with scoliosis, intellectual disability, mental-motor retardation and characteristic facial features. Agenesis of corpus callosum was detected with brain Magnetic Resonance Imaging (MRI) analysis. Derivative chromosome 8 structure was identified after conventional cytogenetics – karyotype analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA) and Microarray-based Comparative Genomic Hybridization (aCGH) techniques. Genotype-phenotype correlation in the current proband case will be discussed. Results: Case was diagnosed as 46, XY, der (8), del (8) (p23.1) invdup (8) (p11.1-p23.1) by using advanced comparable techniques. Subtelomeric MLPA analysis showed deletion of FBXO25 gene which is located at 8p23.3 locus and FISH with subtelomeric probes for 8p shows also only deleted region. The microarray-CGH profilling showed 7,9 mb deletion for 8p23.1 and 31 mb duplication for 8p11.1 locuses. Conclusion: Results from the current case emphasized that the cases with clinical manifestations of such disorders extremely need to be examined by combined comparable genetics techniques such as; karyotyping, FISH, MLPA and chromosomal microarray for the accurate phenotype – genotype correlation. © 2018
dc.description.sponsorshipCanakkale Onsekiz Mart University; Canakkale-Turkey, (BAP- TAY2015/445); Scientific Research Foundation Unit; Çanakkale Onsekiz Mart Üniversitesi, ÇOMÜ
dc.identifier.doi10.1016/j.ejmhg.2018.04.001
dc.identifier.endpage441
dc.identifier.issn1110-8630
dc.identifier.issue4
dc.identifier.scopus2-s2.0-85045401858
dc.identifier.scopusqualityQ4
dc.identifier.startpage437
dc.identifier.urihttps://doi.org/10.1016/j.ejmhg.2018.04.001
dc.identifier.urihttps://hdl.handle.net/20.500.12428/12716
dc.identifier.volume19
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherEgyptian Society of Human Genetics
dc.relation.ispartofEgyptian Journal of Medical Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_Scopus_20250125
dc.subjectArray-CGH; Chromosomal rearrangement; Corpus callosum; MLPA; İnvdupdel(8p)
dc.titleThe clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
dc.typeArticle

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