Table 1 The major clinical features of individuals with overlapping SMC5’s to our patient
SMC5 Coordinates | p10 → p13.1 (Avansino et al., 1999 [15]) | p14 → q11.2 (Stankiewicz et al., 2000 [31]) | p10 → p13.3 (D’Amato Sizonenko et al., 2002 [14]) | p13.3 → q12.3 (D’Amato Sizonenko et al., 2002 [14]) | p12 → q10 (Liehr et al., 2006 [9]) | p13.2 → q11.2 (Sarri et al., 2006 [22]) | p11 → q12.1 (Baldwin et al., 2008 [10]) | p11 → p13.3 (Loscalzo et al., 2008 [21]) | p11 → q12.1 (Melo et al., 2011 [7]) | p14 → q11.1 (Hadzsiev et al., 2014 [28]) | p13.2 → q11.2 (Liehr, 2016 [12]) | p13.2 → q11.1 (Liehr, 2016 [12]) | p13.2 → q12.2 (Camerota et al., 2017 [32]) | p13.3 → q11.2 (Current Case) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age at Evaluation | 5 months | 27 years | 3 months | 9 months | 1 week | 9 years | 1 year | 5 years | 4 years | 10 years | 4 years | 10 months | 17 years | 18 years |
Dysmorphica Facial Features | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
Pectus Excavatum | – | – | – | – | – | – | – | – | – | + | – | – | – | + |
Respiratory Issues | + | – | + | + | – | – | + | + | – | – | – | – | – | + |
Congenital Heart Defect | + | – | – | + | + | + | + | + | – | – | – | + | – | – |
Aortic Dilation | – | – | – | – | – | – | – | – | – | – | – | – | – | + |
Scoliosis | – | – | – | – | – | – | – | – | – | – | – | – | – | + |
Talipes Equinovarus | – | + | + | + | + | – | – | – | – | – | – | – | – | + |
Skin Striae | – | – | – | – | – | – | – | – | – | – | – | – | – | + |
Hypotonia | + | NR | + | + | + | – | – | + | + | + | + | – | – | – |
Seizures | – | – | + | – | – | – | – | + | – | – | – | – | – | – |
Developmental Delay | + | NR | + | + | + | – | + | + | + | + | + | – | – | + |
Speech Delay | NR | + | + | – | + | – | – | + | + | + | + | – | – | – |
Intellectual Disability | NR | + | – | – | – | NR | – | NR | + | + | + | – | – | + |
Failure to Thrive | + | NR | + | + | – | – | + | + | – | – | – | – | – | – |