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dc.creatorSarri, C.en
dc.creatorDouzgou, S.en
dc.creatorGyftodimou, Y.en
dc.creatorTümer, Z.en
dc.creatorRavn, K.en
dc.creatorPasparaki, A.en
dc.creatorSarafidou, T.en
dc.creatorKontos, H.en
dc.creatorKokotas, H.en
dc.creatorKaradima, G.en
dc.creatorGrigoriadou, M.en
dc.creatorPandelia, E.en
dc.creatorTheodorou, V.en
dc.creatorMoschonas, N. K.en
dc.creatorPetersen, M. B.en
dc.date.accessioned2015-11-23T10:47:00Z
dc.date.available2015-11-23T10:47:00Z
dc.date.issued2011
dc.identifier10.1002/ajmg.a.34259
dc.identifier.issn15524825
dc.identifier.urihttp://hdl.handle.net/11615/32891
dc.description.abstractWe report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4Mb deletion on the long arm of chromosome 10, approximately 145kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64Mb 10q26.11-q26.2 duplication, a 1.3Mb region with no copy number change, followed by a 5.62Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes. © 2011 Wiley Periodicals, Inc.en
dc.source.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-80054887678&partnerID=40&md5=e06184531084e04e4d3e873b91f9bd94
dc.subjectArray CGHen
dc.subjectBehavioral anomaliesen
dc.subjectChromosome 10en
dc.subjectDeletionen
dc.subjectDuplicationen
dc.subjectNon-acrocentric satellited chromosomesen
dc.subjectPhychomotor delayen
dc.subjectRNA 28Sen
dc.subjectacrocentric chromosomeen
dc.subjectadolescenten
dc.subjectarticleen
dc.subjectcase reporten
dc.subjectcentromereen
dc.subjectchromosome 10qen
dc.subjectchromosome armen
dc.subjectchromosome banding patternen
dc.subjectchromosome deletionen
dc.subjectchromosome duplicationen
dc.subjectchromosome rearrangementen
dc.subjectchromosome satelliteen
dc.subjectchromosome translocationen
dc.subjectclinical evaluationen
dc.subjectclinical featureen
dc.subjectcomparative genomic hybridizationen
dc.subjectdevelopmental disorderen
dc.subjectfemaleen
dc.subjectfluorescence in situ hybridizationen
dc.subjectfollow upen
dc.subjecthumanen
dc.subjectintellectual impairmenten
dc.subjectmedical historyen
dc.subjectmicrosatellite markeren
dc.subjectmonosomyen
dc.subjectphenotypeen
dc.subjectpolymerase chain reactionen
dc.subjectpriority journalen
dc.subjectquantitative analysisen
dc.subjectsequence homologyen
dc.subjecttelomereen
dc.subjecttrisomyen
dc.subjectBody Dysmorphic Disordersen
dc.subjectChromosome Disordersen
dc.subjectChromosomes, Human, Pair 10en
dc.subjectChromosomes, Human, Yen
dc.subjectFollow-Up Studiesen
dc.subjectHumansen
dc.subjectIn Situ Hybridization, Fluorescenceen
dc.subjectInfanten
dc.subjectInheritance Patternsen
dc.subjectIntellectual Disabilityen
dc.subjectNucleolus Organizer Regionen
dc.subjectPrenatal Diagnosisen
dc.subjectTranslocation, Geneticen
dc.titleComplex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomesen
dc.typejournalArticleen


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