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Table 1 The major clinical features of individuals with overlapping SMC5’s to our patient

From: Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

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 + + + +
  1. 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