A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects.

Weicheng ChenXiaodi LiLiqun SunWei ShengGuoying Huang

Published in: Molecular genetics & genomic medicine (2019)

Our report was the first case in a Chinese family to present that a somatic and suspected gonadal mosaicism of the 22q11.2 microdeletion in female causes recurrent fetal conotruncal defects.

Keyphrases

pulmonary embolism
copy number