Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations

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dc.contributor.authorFrints, S. G.en
dc.contributor.authorFryns, J.en
dc.contributor.authorLagae, L.en
dc.contributor.authorSyrrou, M.en
dc.contributor.authorMarynen, P.en
dc.contributor.authorDevriendt, K.en
dc.date.accessioned2015-11-24T18:55:52Z
dc.date.available2015-11-24T18:55:52Z
dc.identifier.issn0003-3995-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/18942
dc.rightsDefault Licence-
dc.subjectAbnormalities, Multiple/*genetics/*physiopathologyen
dc.subjectAdulten
dc.subjectChromosome Breakage/geneticsen
dc.subjectDosage Compensation, Geneticen
dc.subjectFace/abnormalitiesen
dc.subjectFemaleen
dc.subjectHeterochromatin/geneticsen
dc.subjectHumansen
dc.subjectIn Situ Hybridization, Fluorescenceen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectKaryotypingen
dc.subjectMaleen
dc.subjectMicrosatellite Repeats/geneticsen
dc.subjectPhenotypeen
dc.subjectReceptors, Androgen/geneticsen
dc.subjectTranslocation, Genetic/*geneticsen
dc.subjectX Chromosome/*geneticsen
dc.subjectY Chromosome/*geneticsen
dc.titleXp22.3; Yq11.2 chromosome translocation and its clinical manifestationsen
heal.abstractWe report clinical and molecular investigations in a boy with karyotype 46,Y,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter) and his mother with karyotype 46,X,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter). Haplo-insufficiency for the Xp22.3-->pter chromosomal region in the boy resulted in postnatal growth retardation, developmental delay, partial ichthyosis and facial dysmorphism, but normal external genitals. His mother has a normal phenotype with normal stature and gonadal function but borderline intelligence. FISH-analysis showed a duplication of the Y-heterochromatin probe in the proband and a deletion of the Y933D4 probe in his mother. Molecular investigations situated the Xp22.3 breakpoint between DXS278 and the KAL gene and the Yq11.21 breakpoint between the DYS391 and DYS390 in the proband and his mother. X-inactivation study was performed by analysis of the polymorphic CAG-repeat in the androgen-receptor gene as described showing a normal random (40% versus 60%) inactivation pattern in the mother. The manifestations in male and female with loss of the Xp22.3-->pter and gain of the Yq11.21-->qter chromosomal region are discussed.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/11522244-
heal.identifier.secondaryhttp://ac.els-cdn.com/S0003399501010711/1-s2.0-S0003399501010711-main.pdf?_tid=e91e637caf8122dd320d7f75173014d7&acdnat=1333008421_ec7004b7eaab5574cfd76387a34e648f-
heal.journalNameAnn Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2001-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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