Τίτλος:
Unexpected results in the constitution of small supernumerary marker chromosomes
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Traditional approaches for the classification of Small Supernumerary Marker Chromosomes (sSMC), mostly based on FISH techniques, are time-consuming and not always sufficient to fully understand the true complexity of this class of rearrangements. We describe four supernumerary marker chromosomes that, after array-CGH, were interpreted rather differently in respect to the early classification made by conventional cytogenetics and FISH investigations, reporting two types of complex markers which DNA content was overlooked by conventional approaches: 1. the sSMC contains non-contiguous regions of the same chromosome and, 2. the sSMC, initially interpreted as a supernumerary del(15), turns out to be a derivative 15 to which the portion of another chromosome was attached. All are likely derived from partial trisomy rescue events, bringing further demonstration that germline chromosomal imbalances are submitted to intense reshuffling during the embryogenesis, leading to unexpected complexity and changing the present ideas on the composition of supernumerary marker chromosomes. © 2012 Elsevier Masson SAS.
Συγγραφείς:
Vetro, A.
Manolakos, E.
Petersen, M.B.
Thomaidis, L.
Liehr, T.
Croci, G.
Franchi, F.
Marinelli, M.
Meneghelli, E.
Dal Bello, B.
Cesari, S.
Iasci, A.
Arrigo, G.
Zuffardi, O.
Περιοδικό:
European Journal of Medical Genetics
Λέξεις-κλειδιά:
amniocentesis; article; case report; child; chorion villus sampling; chromosome 15; chromosome 15q; chromosome deletion; chromosome map; chromosome marker; chromosome rearrangement; chromosome size; clinodactyly; comparative genomic hybridization; congenital heart malformation; cytogenetics; DNA extraction; embryo; embryo development; face dysmorphia; female; fluorescence in situ hybridization; gene duplication; gene locus; genetic counseling; gestational age; growth retardation; human; karyotyping; kyphosis; male; meiosis; mental deficiency; microcephaly; microsatellite marker; molecular typing; mosaicism; muscle hypotonia; newborn; nuchal translucency measurement; partial trisomy; pregnancy termination; prenatal diagnosis; preschool child; situs solitus; small for date infant; small supernumerary marker chromosome, Adult; Child; Chromosomes, Human; Comparative Genomic Hybridization; Female; Fetus; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Intellectual Disability; Male; Trisomy
DOI:
10.1016/j.ejmg.2012.01.010
