Table 1 Clinical and molecular features of the reported patients with a contiguous 7q21.3 gene deletion smaller than 2.5 Mb.
From: PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion
|  | This study | Asmus et al. 2007 | Peall et al. 2014 | Dale et al. 2011 | Saugier-Veber et al. 2010 | Grünewald et al. 2008 |
|---|---|---|---|---|---|---|
CNV details Size (Mb) n. of affected genes | 0.109 2 | 1.63 10 | 2.3/2.0/1.9/0.7 16/16/15/4 | 0.17 2 | 1.88 15 | 1.09/1.35 5/3 |
Included PEG10 gene | Yes | yes | 4 yes /1 no | no | no | yes/probably |
Inheritance | Pat # | NA | NA | Pat # | Pat | Pat #/DN* |
n. of patients | 2 | 1 | 5 | 2 | 2 | 3 |
Placental defects | - | - | - | - | + / 1 NA | NA |
IUGR/SGA | - | - | + | - | + / 1 NA | NA |
Relative macrocephaly at birth | ++ | NA | NA | - | - / 1 NA | NA |
Protruding forehead | ++ | NR | NR | - | - | NR |
Short stature | ++ | + | +++++ | - | ++ | NR |
OI features Blue sclerae Joint laxity Dental anomalies Bone fracture Hearing loss | a - - - - - | - + + + + | - + - - - | a - - - - - | - + - - - | - +++ - + - |
Thin body/feeding difficulties | ++ | - | NR | - | + | NR |
Facial dysmorphism | ++ | - | NR | - | - | NR |
Microcephaly | - | - | ++ | - | ++ | NR |
Motor delay | ++ | - | - | ++ | + | NR |
Speech delay | - | - | + | ++ | + | NR |
Myoclonus-Dystonia | -§ | + | +++++ | ++ | ++ | 3 |
Cognitive impairment | - | - | + | ++ | ++ | NR |
