Andrology-Open Access
Open Access

Laboratoire de Biologie de la Reproduction-CECOS, Hôpital Cochin, AP-HP, Centre Université de Paris, F-75014 Paris, France

Publications

• Review Article   
  The Importance of Germline Mosaicism in the Occurrence of De novo Mutational Events and its Necessary Diagnosis
  Author(s): Celine Chalas* and Catherine Patrat
  
  For long, germline mosaicism has been considered a very rare event whereas it was in fact underestimated because of its lack of diagnosis. Thanks to the development of NGS (next generation sequencing) applied to intergeneration studies; its occurrence is now better diagnosed. Genomic variations characteristic of this phenomenon can be either Single Nucleotide Polymorphism (SNP) or Copy Number Variations (CNV). De novo mutations resulting in germline mosaicism can appear either pre or postzygotically. If the mutation occurs postzygotically, the mutation may exist in the germ cells but also in the soma. In that case, the mosaic carrier is healthy because of the low level of expression of the mutation. However, the mutation will be transmitted to all cells of the offspring that will express the disease. On the contrary, if the mutational event occurs prezygotically in the germ c.. View More»
  DOI: 10.35248/2167-0250.22.S2.003

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