Table 2 Genetic and clinical features of cases with sSMC8
From: First case of two supernumerary markers derived from chromosome 5 and chromosome 8
Allen and Hodgkin [15] | Biennow et al. [16] | Digilio et al. pz 1 [17] | Digilio et al. pz 2 [17] | Melnyk and Dewald [18] | Ohashi et al. [19] | Butler et al. [20] | Spinner et al. [21] | Rothernmund et al. II-1 [22] | Rothernmund et al. III-1 [22] | Rothenmund et al. III-2 [22] | Present case | Total | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
(a) | |||||||||||||
sSMC coordinates | 8p21-pter | centromeric | Isodicentric 8p;8p | Isodicentric 8p;8p | 8p11.2-q11.2 | (8p23.1-pter) | pericentric | Pericentric p11-q11 | pericentric | pericentric | pericentric | 8p11.21q11.21 | |
Karyotype | 46 XX -11+der (11)t(8;11) (p21q25) | 46 XX /47XX+mar | 46XX/46XX-8+idic(8) (qter-p23) | 46XX/46XX-8+idic(8) (qter-p23) | 47 XX+mar | 47 XX+mar | 47 XY+mar | 47 XY+mar | 46 XY (90) /47XY+mar (10) | 47 XX+mar | 47 XX+mar | 48, XX,+mar1,+mar2 | |
Age at evaluation | At birth | 1 year | 14 months | 2 months | 15 months | 2 years | At birth | 7 months | 30 years | 4 years | XX at birth | XX, 21 months | |
Gestational age | 34 weeks | 39 weeks | 28 weeks | At term | At term | 35 weeks | At term | At term | / | At term | At term | 30 weeks | |
Developmental delay | − | − | − | + | + | + | − | + | − | + | + | + | 11/19 |
Intellectual disability | + | + | + | + | + | − | + | + | − | + | + | + | 16/19 |
Congenital heart defect | + | − | + | + | − | + | − | − | − | − | + | + | 7/19 |
Respiratory issues | − | − | + | − | − | + | − | − | − | + | − | + | 6/19 |
Macrocephaly | + | − | − | − | − | − | − | + | − | − | − | + | 5/19 |
Upslanted palpebral fissures | − | − | − | + | + | − | − | − | − | − | − | + | 4/19 |
Hypertelorism | + | + | − | + | − | − | − | − | − | − | − | + | 5/19 |
Midface hypoplasia | − | − | − | − | − | − | − | − | − | − | − | + | 1/19 |
Depressed nasal bridge | − | − | + | + | + | − | − | − | − | − | − | + | 5/19 |
Batanian et al. pz 1 [23] | Batanian et al. pz 2 [23] | Batanian et al. pz 3 [23] | Tonk et al. pz 1 [24] | Tonk et al. pz 2 [24] | Loeffle et al. [25] | Vander Pluym et al. [26] | Present case | Total | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
(b) | |||||||||||||
sSMC coordinates | 8cen-p12 | 8cen-p21 | Dup (8cen-p21) | pericentric | pericentric | 8p12-q12 | 8p11.21q11.21 | 8p11.21q11.21 | |||||
Karyotype | 46 XY/47 XY +mar | 47 XX +mar | 46,XX /47,XX+mar | 47 XX+mar | 46,XY /47,XY+mar | 46 XX/47 XX +mar | 47 XX, +mar | 48, XX,+mar1,+mar2 | |||||
Age at evaluation | 5 years | 10 years | At birth | 7 months | 6 months | 16 years | 3 years | 21 months | |||||
Gestational age | At term | At term | 37 weeks | At term | At term | ? | At term | 30 weeks | |||||
Developmental delay | + | + | − | − | + | − | + | + | 11/19 | ||||
Intellectual disability | + | + | − | + | + | + | + | + | 16/19 | ||||
Congenital heart defect | − | + | − | − | − | − | − | + | 7/19 | ||||
Respiratory issues | + | − | − | − | − | − | + | + | 6/19 | ||||
Macrocephaly | − | + | − | − | + | − | − | + | 5/19 | ||||
Upslanted palpebral fissures | − | − | − | − | − | + | − | + | 4/19 | ||||
Hypertelorism | − | − | − | − | − | + | − | + | 5/19 | ||||
Midface hypoplasia | − | − | − | − | − | − | − | + | 1/19 | ||||
Depressed nasal bridge | − | − | + | − | − | − | − | + | 5/19 |