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Table 2 Cytogenetic profile of mosaicism for structural rearrangement in affected and asymptomatic patients

From: Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions

Group

No of carriers

Type of chromosome rearrangement, n (%)

Deletionsb

Duplications

Rings

Unbalanced translocations

Other rearrangements

Affected (present study)a

203

65 (32%)

39 (19%)

47 (23%)c

23 (11%)

29 (14%)

Asymptomatic (Kovaleva, Cotter, 2016)

45

18 (40%)

9 (20%)

9 (20%)d

4 (9%)

5 (11%)

  1. aexcluding cases of apparently balanced and rescued rearrangements
  2. bexcluding 13 cases of del(13q) associated with retinoblastoma
  3. c55% of apparently deleted rings
  4. d14% of apparently deleted rings