Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission

Table 1

PAR genes from the DECIPHER database. Copy number variations (CNVs) referenced were in italics. The loss of PAR1 gene (PLCXD1, GTPBP6, PPP2R3B, and SHOX) CNVs was in bold. The gain of PAR2 gene (SPRY3, VAMP7, IL9R, and WASH6P) CNVs was underlined.

Pseudoautosomal region	Gene	Gene symbol	Normal male	Proband
PAR1	PLCXD1	Phospatidylinositol-specific phospholipase C,X domain containing 1	2×	1×
	GTPBP6	GTP binding protein 6	2×	1×
	PPP2R3B	Protein phosphatase 2, regulatory subunit B	2×	1×
	SHOX	Short stature homeobox	2×	1×
	CRLF2	Cytokine receptor-like factor 2	2×	2×
	CSF2RA	Colony-stimulating factor 2 receptor, alpha	2×	2×
	IL3RA	Interleukin 3 receptor, alpha	2×	2×
	SLC25A6	Solute carrier family 25, member A6	2×	2×
	ASMTL	Acetylserotonin omethyltransferase-like	2×	2×
	P2RY8	Purinergic receptor P2Y, G-protein coupled, 8	2×	2×
	AKAP17A	A-kinase anchoring protein 17A	2×	2×
	ASMT	Acetylserotonin O-methyltransferase	2×	2×
	DHRSXY	Dehydrogenase/reductase (SDR family) X-linked	2×	2×
	ZBED1	Zinc finger, BED-type containing 1	2×	2×
	CD99	CD99 molecule	2×	2×
	XG	XG blood group	2×	2×
PAR2	SPRY3	Sprouty RTK signaling antagonist 3	2×	3×
	VAMP7	Vesicle associated membrane protein 7	2×	3×
	IL9R	Interleukin 9 receptor	2×	3×
	WASH6P	WASP family homolog 6, pseudogene	2×	3×