Unexpected results in the constitution of small supernumerary marker chromosomes

European Journal of Medical Genetics
Annalisa VetroOrsetta Zuffardi

Abstract

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.

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Citations

Sep 1, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kavita S ReddyHarold Bass
Jun 18, 2016·Molecular Cytogenetics·Juliana Dourado GrzesiukLucia Martelli
Feb 16, 2017·European Journal of Human Genetics : EJHG·Annalisa VetroOrsetta Zuffardi
Nov 10, 2018·Human Mutation·Nehir Edibe KurtasOrsetta Zuffardi
Oct 31, 2013·The Journal of Clinical Endocrinology and Metabolism·Paraskevi SalpeaConstantine A Stratakis
Oct 3, 2018·Human Genetics·Maria Clara BonagliaOrsetta Zuffardi

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