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. 2014 Nov 5;23(8):1010–1018. doi: 10.1038/ejhg.2014.230

Table 3. Summarised description of our patients and published ones.

  Our patients Previous reportsa Overall
Genderb 11M/4F 11M/8F 22M/12F
Parental originc 7P/2M 7P/1M 14P/3M
       
Perinatal data
 Hypotonia 3/11 12/20 48%
 Feeding difficulties 4/13 4/20 24%
       
Clinical features
 Development delay 13/13 16/17 97%
 Learning disabilities 14/14 15/16 97%
 Behavioural problems 10/12 7/16 61%
 Sleep disorders 4/12 1/19 16%
 Hyperphagia 5/14 6/8 50%
 Obesity 10/14 10/17 65%
       
Craniofacial features
 Rounded face/full cheeks 11/12 6/19 55%
 Skull features 7/15 11/19 53%
 Philtrum features 6/15 6/19 35%
 Bulbous nose 5/15 2/19 21%
Abnormal extremities 10/14 10/17 65%
 Hands 6/14 7/17 42%
 Feet 4/14 5/17 29%
Genital anomalies 2/15 2/20 11%
Abnormal brain MRI 1/7 8/10 53%
Vision anomalies 8/14 7/13 56%

Main features in our patients and previously reported ones, with molecularly defined 6q16.2 and/or 6q16.3 deletions.

a

Previous reports.3, 13, 15, 16, 17, 18, 21, 22, 23, 24, 25

b

M: Male, F: Female.

c

P: Paternal, M: Maternal.