Table 1 Genetic and clinical features of cases with sSMC 5
From: First case of two supernumerary markers derived from chromosome 5 and chromosome 8
Avansino et al. [7] | Stankiewicz et al. (case 1) [8] | D’Amato Sizonenko et al. (case 1) [9] | D’Amato Sizonenko et al. (case 2) [9] | Sarri et al. [10] | Loscalzo et al. [11] | Melo et al. [12] | Hadzsiev et al. [13] | Camerota et al. [14] | Armstrong et al. [4] | Present case | Total | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMC5 coordinates | 5p10 p13.1 | 5p14 q11.2 | 5p10 p13.3 | 5p13.3q12.3 | 5p13q11.2 | 5p11 p13.3 | 5p11q12.1 | 5p14 q11.1 | 5p13 q12.2 | 5p13.3 q11.2 | 5p13 q11.2 | |
Karyotype | 47 XY+mar | 47,XX,+r/46,XX | 47,XX+r/46,XX | 47,XY+r/46,XY | 47 XX,+r/46,XX | 46,XX,dup(5) | 47 XX,+r/46,XX | 47 XX,+mar | 47 XX+r/46 XX | 47 XY,+mar | 48, XX,+mar1,+mar | |
Age at evaluation | 5 months | 7 y | 3 y | 9 months | 9 y | 5 y | 4 y | 10 y | 17 y | 18 y | 1 months | |
Gestational age | 31 weeks | NR | 37 weeks | 37 weeks | 37 weeks | 33 weeks | NR | At term | At term | 30 weeks | 30 weeks | |
Developmental delay | + | NR | + | + | − | + | + | + | − | + | + | 8/11 |
Intellectual disability | NR | + | + | − | + | NR | + | + | − | + | + | 7/11 |
Congenital heart defect | + | − | − | − | + | + | − | − | − | − | + | 4/11 |
Respiratory issues | + | − | + | + | − | + | − | − | − | + | + | 6/11 |
Macrocephaly | + | NR | + | + | + | + | NR | + | + | + | + | 9/11 |
Upslanted palpebral fissures | + | + | + | + | − | + | NR | − | + | − | + | 7/11 |
Hypertelorism | + | + | + | + | + | + | + | + | + | − | + | 10/11 |
Midface hypoplasia | + | − | + | + | − | − | NR | + | − | + | + | 6/11 |
Depressed nasal bridge | + | + | + | + | − | + | − | + | + | − | + | 8/11 |