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Table 2 Phenotypic overlap between our patient and a patient reported by Avansino et al. [15] and Sarri et al. [22]. Note some of the craniofacial and other physical features also reported in connective tissue disorders, e.g. dolichocephaly, malar hypoplasia/midface hypoplasia, etc. Some of these features were reported in Novara et al. [18] which is not included in this table

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

  Current Case Avansino et al., 1999 Sarri et al., 2006
Duplication: mar(5)(p13.3-q11.2) [40–45% mosaicism] mar(5)(p10-p13.1) r(5)(p13.2~ 13.3-q11.2) [60% mosaicism]
Dysmorphic Facial Features:
 Macrocephaly + + +
 Dolichocephaly + + +
 Epicanthal folds + +
 Upslanting palpebral fissures + Down-slanting
 Hypotelorism/ Hypertelorism Hypo Hyper Hyper
 Esotropia/strabismus +
 Short nose +
 Malar hypoplasia +
 Midface hypoplasia +
 Pre-auricular pit Bilateral Unilateral Bilateral
 High arched palate +
 Arachnodactyly/tapered fingers + + +
Other Features:
 Polyhydramnios + +
 Pectus excavatum +
 Respiratory issues + +
 Congenital heart defect + +
 Aortic dilation + NR
 Scoliosis +
 Talipes equinovarus +
 Seizures
 Hypotonia +
 Developmental delay + + Borderline
  1. NR not reported