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Table 2 Comparison of similar cases with inverted duplicated neocentric sSMC

From: Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome

Case number Karyotype and grade of mosaicism Type of rearrangement Karyotype of parents Reference on sSMC homepage [11]
1 47,XX,del(1)(q32),+der(1)(qter → q32::q32 → qter)[100%] Terminal deletion + Inv dup(possibly) NOR 01-N-q32/1-1
2 47,XX,del(9)(p12),+der(9)(pter → p12::p12 → pter)[100%] Terminal deletion + Inv dup NOR 09-N-pt12/1-1
3 47,XY,del(11)(q22),+der(11)(qter → q22::q22 → qter)[100%] Terminal deletion + Inv dup NOR 11-N-qt22/1-1
4 47,XX,del(13)(q32.3),+der(13)(qter → q32.3::q32.3 → qter)[100%] Terminal deletion + Inv dup NA 13-N-qt32.3/2-1
5 47,XX,del(14)(q32.1),+der(14)(qter → q32.1::q32.1 → qter)[100%] Terminal deletion + Inv dup NOR 14-N-qt32.1/1-1
6 47,XY,i(16)(q10), +der(16)(p13.3p11.2)[100%] Deletion + Iso NOR 16-N-p11.2/1-1
7 47,XY,del(17)(q22q23),+der(17)(:q22 → q23::q23 → q22:)[100%] Interstitial deletion + Inv dup NOR 17-N-qt22/1-1
8 47,XX,del(20)(p11.2),+der(20)(pter → p11.2::p11.2 → pter)[100%] Terminal deletion + Inv dup NOR 20-N-pt11.2/1-1
9 47,XX,del(2)(q33.3),+der(2)(qter → q33.3::q33.3 → qter)[100%] Terminal deletion + Inv dup NOR the present case
  1. Inv dup, inverted duplication; Iso, isochromosomes; NA, not available for testing; NOR, normal.