Table 5

Clinical features of individuals with overlapping microdeletion previously reported in the literature

Patient 10 DECIPHER 1571Patient 11 DECIPHER 4539Patient 12 Friedman et al4Patient 13 Harada et al3
Deletion4q13.2q21.214q21.21q21.234q21.21q22.14q21.1q22.2
Size (Mb)153.21114.8
Distinctive facial dysmorphismND+ND+
 (a) Frontal bossing, broad forehead−
 (b) Hypertelorism+
 (c) Short philtrum+−
Developmental delay/severe mental retardationND+++
 (a) Severely delayed speech++ND+
 (b) Neonatal hypotoniaND+++
Measurement abnormalities++++
 (a) IUGRND−ND−
 (b) Postnatal growth delay++++
−7.4 SD
 (c) Conserved head circumferenceND+NDND
 (d) Small hands and small feet++
 (e) Brachydactyly
Cerebral imageryNDNDNDND

  • +, Feature present; −, feature absent; ND, no data available.

  • IUGR (intrauterine growth retardation).