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Table 1 Comparative clinical features and cytogenetic results in various cases of ring chromosome 6

From: A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature

  Single cell line (one of the chromosome #6 has been replaced by a ring chromosome 6) Mosaicism (structural and numerical variants of ring chromosome #6 are present in various cell lines in different proportions)
2 cell lines 3 cell lines 4 cell lines 5 cell lines  
Publications Pace et al. [13] Ciocca et al. [14] Ahzad et al. [15] Walker et al. [16] Kini et al. [17] Fried et al. [18] Zhang et al. [19] Fraction Hurd et al. [20] Lee et al. [8] Andrieux et al. [21] Kara et al. [22] Nishigaki et al. [23] Hockner et al. [24] Nishi et al. [25] Present case Fraction
Karyotype Not available 46,XX,r(6)(p25q27) 46,XY,r(6)(p25q27) 46,XY,r(6)(p25q27) Not available Not available 46,XY,r(6)(p25q27).ish r(6)(p25.1q27)   47, XY, +r [17]/48,XY, +rx2 [3] and second case
47, XY, +mar[12]/46,XY[3]
46, XY, r(6)(p25q27)/46, XY, dic r(6;6)(p25q27;p25q27) 46,XY,r(6)(p25q27)/45,XY-6 mos46,XY,r(6)(p24;q26),del(6)(q27) [30]/46,XY,del(6)(q27) [20] mos 46,XX,r(6)(p25q27)[67]/45,XX,-6[25]/46,XX,dic r(6:6)(p25q27:p25q27)[6]/47,XX,r(6)(p25q27)× 2[2] mos 46,XX,r(6)(p25.3q27)[16]/45,XX,-6[2]/46,XX,dic r(6:6)(p25.3q27:p25.3q27)[2]/47,XX,r(6)(p25.3q27) × 2[1] Not available mos 46,XY,r(6)(p25.3q27)[54]/45,XY,-6[13]/46,XY,r(6)(::p25.3→q27::p25.3→q27::)[13]/46,XY[6]/47,XY,r(6)(p25.3q27)×2[2]dn  
Clinical features
 Microcephaly   6/7   7/8
 Facial dysmorphism    5/7   7/8
 Glaucoma        1/7          
 Hearing loss      3/7         1/8
 Tachypnea                1/8
 Speech delay              3/8
 White matter abnormalities in brain              3/8
 Developmental delay      3/7      4/8
 Growth retardation      3/7      4/8
 Intellectual disability       2/7      4/8
 Scoliosis        1/7         1/8
 Cardiac anomalies (ASD,CHD,PDA)      3/7         1/8
 Abnormalities in the digits (brachydactyly/clinodactyly/bilateral syndactyly)      3/7      4/8
 Single palmar crease        1/7         
 Penile chordee                1/8
 Sacral dimple                1/8
 Abnormalities in the foot        1/7         1/8
 Complex bone disorders         √ (2)         2/8
 Dry skin        1/7         
 seizures      3/7 √ (2)        3/8
 Umbilical hernia        1/7         
  1. ASD atrial septal defect, CHD congenital heart defect, PDA patent ductus arteriosus