c.

Published cases of CNVs or SNVs unmasked by a CCR

Phenotype of proband	Unmasked gene	Gene location	CNV or SNV	Parental origin of SNV	Chromosomal location	Deletion size, Mb	Parental origin of deletion	Reference
Primary amenorrhea, hypergonadotropic hypogonadism, disturbed folliculogenesis	FSHR	2p16.3	p. Pro587His; c. 1760C4A	Paternally inherited	t(2;8)(p16.3or21;p23.1)	?	maternally inherited	Kuechler et al., 2010
Short stature + congenital pulmonary alveolar proteinosis	CSF2RA	Yp11.32	gene deletion	maternally inherited	Xp22.33p22.2	?	de novo paternal	Auger et al., 2013