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 | + | + | – | – | + | + | – | – | – | – | – | – |
aDysmorphic facial features described in individuals included dolichocephaly, epicanthal folds, upslanting palpebral fissures, hypertelorism, microphthalmia/coloboma, strabismus, broad nasal bridge, short nose, midface hypoplasia, macroglossia, microretrognathia, pre-auricular pits, and/or low-set/dysplastic ears [6, 7, 10, 14, 15, 22, 28, 31, 32]. “NR” represents that the feature was not reported in the publication