Heteromorphic variants of chromosome 9

Table 1 Summary of the 334 cases with overall 423 heteromorphic variants; number of cases with any of the 17 variants detected in this study, number of male and female cases, indications, origin (Eastern or Western Europe), inheritance and presence of an additional rearrangement are listed

Variant	How often variant was found	Female	Male	Indication and origin of carrier			Inheritance			Additional rearrangements (other than chromosome 9)
Variant	How often variant was found	Female	Male	indication	Eastern Europe	Western Europe	dn	mat	pat	Additional rearrangements (other than chromosome 9)
inv(9)(var1)	101	45	48	infertility	19	16	1 on mat chr.	6	9	4
				prenatal	9	5
				DD/ MR	11	18
				others	4	9
inv(9)(var2)	98	55	31	infertility	26	16	0	4	1	2
				prenatal	2	7
				DD/ MR	7	13
				others	2	14
inv(9)(var2a)	9	8	1	infertility	1	0	0	2	1	1
				prenatal	1	3
				DD/ MR	4	0
				others	0	0
inv(9)(het)	1	1	0	prenatal	0	1	0	1	0	0
9qh+	86	46	36	infertility	16	12	0	2	2	2
				prenatal	2	6
				DD/ MR	5	6
				others	5	3
9qh+(var1)	2	0	2	prenatal	1	0	0	0	1	0
9qh-	13	28	12	infertility	7	4	0	1	1	0
				prenatal	1	3
				DD/ MR	3	1
				others	0	1
9ph+	46	18	20	infertility	4	12	0	3	1	2
				prenatal	2	11
				DD/ MR	1	8
				others	1	1
9ph++	1	0	1	infertility	0	1	0	0	0	0
9ph-	1	1	0	infertility	0	1	0	0	0	0
dic(9)(var1)	13	10	2	infertility	1	4	0	1	1	0
				prenatal	0	2
				DD/ MR	0	1
				others	0	0
dic(9)(var2)	1	1	0	prenatal	0	1	0	0	0	0
dic(9)(var3)	2	0	2	infertility	1	0	0	0	0	0
				prenatal	0	1
dup(9)(var1)	12	6	3	infertility	0	6	0	0	0	0
				prenatal	2	1
				DD/ MR	0	1
				others	1	1
dup(9)(var2)	2	2	0	infertility	0	1	0	0	0	0
				prenatal	0	1
9cenh+	32	16	15	infertility	6	4	0	1	0	0
				prenatal	2	6
				DD/ MR	3	6
				others	3	0
9cenh-	3	0	3	prenatal	1	1	0	1	0	0
				DD/ MR	1	0
Sum	423	237	176	infertility	81	77	1	22	17	11
				prenatal	23	49
				DD/ MR	35	54
				others	16	29

E-Europe = majority: Armenia, Belarus, Turkey; single cases from: Greece, Serbia.
W-Europe = majority: Germany; single cases from: Croatia, Hungary, Spain, Switzerland.
Other aberrations: del(4)(p15.2), 45,X/46,XY/47,XY, 45,X/46,XX, del(9)(p24p22), t(4;6)(q27;p21.32), inv(7)(q35q36.1~36.2), t(15;21)(p12;q11.2~q21), der(9)t(6;9), +21, +14 and +21, t_rob(22;22).
Abbreviations: DD = developmental delay; dn = de novo; mat = maternal, MR = mental retardation; pat = paternal.

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