Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter

Απλή σελίδα τεκμηρίου
dc.contributor.authorSarri, C.en
dc.contributor.authorGyftodimou, J.en
dc.contributor.authorAvramopoulos, D.en
dc.contributor.authorGrigoriadou, M.en
dc.contributor.authorPedersen, W.en
dc.contributor.authorPandelia, E.en
dc.contributor.authorPangalos, C.en
dc.contributor.authorAbazis, D.en
dc.contributor.authorKitsos, G.en
dc.contributor.authorVassilopoulos, D.en
dc.contributor.authorBrondum-Nielsen, K.en
dc.contributor.authorPetersen, M. B.en
dc.date.accessioned2015-11-24T19:00:00Z
dc.date.available2015-11-24T19:00:00Z
dc.identifier.issn0148-7299-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19460
dc.rightsDefault Licence-
dc.subjectAbnormalities, Multiple/*geneticsen
dc.subjectChild, Preschoolen
dc.subjectChromosome Mappingen
dc.subject*Chromosomes, Human, Pair 17en
dc.subjectFemaleen
dc.subjectGenetic Markersen
dc.subjectGenomic Imprintingen
dc.subjectHumansen
dc.subjectKaryotypingen
dc.subjectMaleen
dc.subject*Monosomyen
dc.subjectPolymorphism, Geneticen
dc.subjectPsychomotor Performanceen
dc.subject*Translocation, Geneticen
dc.subject*Trisomyen
dc.subject*X Chromosomeen
dc.subjectZygoteen
dc.titlePartial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qteren
heal.abstractPartial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Differential chromosomal staining demonstrated an excess of genetic material on the long arm of the late replicating X chromosome. FISH and DNA polymorphism analysis showed that the extra material belonged to the distal part of the long arm of chromosome 17 and that there was a partial monosomy of the distal part of the long arm of the derivative X chromosome. The breakpoint regions of this translocation were identified by molecular analysis using polymorphic microsatellite markers on human chromosomes 17 and X. The origin of the abnormal X chromosome was found to be paternal, whereas the origin of the duplicated part of chromosome 17 was maternal. The unbalanced translocation between the paternal X and the maternal chromosome 17 is, therefore, suggested to be due to a postzygotic error.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/9129747-
heal.journalNameAm J Med Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate1997-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

Αρχεία

Φάκελος/Πακέτο αδειών

Προβολή: 1 - 1 of 1
Μικρογραφία εικόνας
Ονομα:
license.txt
Μέγεθος:
1.74 KB
Μορφότυπο:
Item-specific license agreed upon to submission
Περιγραφή:
Κατεβάστε

Συλλογές

Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ