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Table 3 Suggestion for a new nomenclature of the 24 yet known chromosome 9 heteromorphisms: the name for the variant, the description according to ISCN (2009) [[20]] and if and where the variant was reported previously are given

From: Heteromorphic variants of chromosome 9

Variant

ISCN description

Previously reported as [Ref]

Found in the present study

inv(9)(var1)

inv(9)(p12q21.11)

- inv(var1) [6]

inv(9)(var2)

inv(9)(p13.1q21.11)

- inv(var2) [6]

inv(9)(var2a)

inv(9)(p13.1q21.11)

- n.a.

inv(9)(het)

inv(9)(p11.1q12)

- n.a.

9qh+

9qh+ or amp(9)(q12)

- 9qh+ [28]

- 9qh+ [6]

9qh+(var1)

amp(9)(q13q21.11)

- 9q21 amplification variant [9, 10]

9qh-

9qh- or del(9)(q12)

- 9qh- [6]

9ph+

9ph+ or dup/trp(9)(p11.2~12)

- 9ph+ [6]

- 9p12 duplication variant [9]

9ph++ (type 1)

9ph++ amp(9)(p11.2~12)

- 9p12 amplification variant [8, 9]

9ph++ (type 1)

 

- In [7] two subtypes distinguished

  

- 9p12 amplification variant [10]

9ph-

9ph- del(p11.2~12)

- 9qh- [29, 30]

dic(9)(var1)

dic(9)(pter->q21.11::p13.1->qter)

- 9qh+ and inv (var5) [6]

dic(9)(var2)

dic(9)(pter->q12::p11.2->qter)

- n.a.

dic(9)(var3)

dic(9)(pter->q11::p11.1->qter)

- inversion type A [4]

dup(9)(var1)

der(9)(pter->q21.11::q12->qter)

- inversion type I or type III [2]

- 9qh+ and inv (var3) [6]

- extra signal(s) in var 9q12 [9]

- 9q12 insertion variant [10]

dup(9)(var2)

der(9)(pter->q12::q21.11->q12::q21.11->q21.11::q12->qter)

- 9qh+ and inv (var4) [6]

9cenh+

9cenh+

- n.a.

9cenh-

9cenh-

- n.a.

Found in other studies

inv dup(9)(var1)

der(9)(pter->q13~21.11::q13~21.11->p1?1.1::q13~21.11->qter)

- inversion type II [2] originally

- reported only once [31]

dic(9)(var4)

inv(9)(p10q12)

- inversion type A [3]

  

- inversion type D [4]

dic(9)(var5)

der(9)(pter->p10::q12->q11~12::q12->q11~12::q10->qter)

- inversion type C [3]

- inversion type C [4]

inv(9)(het)(var1)

inv(9)(q11~12q12~13)

- inversion type B [3]

  

- inversion type B [4]

del(9q)(var1)

del(9)(q13q21.11)

- 9q21 deletion variant [9, 10]

- also postulated to exist by [2]

trip(9)(var1)

der(9)(pter->q21.11::q12->q21.11::q12->qter)

- 9q12 euchromatic variant (EV) triplication

  

- variant [9]