Table 2. Pathogenic gene dose imbalances identified using array-CGH.

Patient/fetal case	Detected variant	Affected genes	Inheritance	Clinical significance
FC10	del(X)(p22.2p22.2) 0.01–0.04 Mb	FANCB	maternal	pathogenic
	chrX:14785775-14797007		(X-linked recessive)
FC14	del(9)(p24.3p24.1) 7.3 Mb	∼40 Ref Seq genes deleted	paternal	pathogenic
	chr9:194178-7534426		(father carrier of balanced 9;18 translocation)
	dup(18)(q12.3q23) 34.3 Mb	∼160 Ref Seq genes duplicated	paternal
	chr18:41777994-76116089		(father carrier of balanced 9;18 translocation)

Genomic coordinates according to genomic build Mar. 2006 (NCBI36/hg18).