Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin
Viart, Victoria, Willems, Marjolaine, Ishmukhametova, Aliya, Dufernez, Fabienne, Anahory, Tal, Hamamah, Samir, Schmitt, Sébastien, Claustres, Mireille, Girardet, AnneVolume:
37
Language:
english
Journal:
Prenatal Diagnosis
DOI:
10.1002/pd.4982
Date:
February, 2017
File:
PDF, 1016 KB
english, 2017