Skip to main content
. 2013 Jul 17;22(3):369–373. doi: 10.1038/ejhg.2013.141

Table 1. Clinical features of our patient compared with previously reported cases of 16p11.2 deletions and patients with classic JNCL.

  Large 16p11.2 deletion Common proximal 16p11.2 deletion Atypical 16p11.2 deletion Classic JNCL (1.02 kb deletion on CLN3 gene)  
Clinical spectrum Ballif et al., 20074 Bochukova et al., 20107 Bochukova et al., 20107 Hanson et al., 20108 Sampson et al., 20109 Sampson et al., 20109 Ghebranious et al., 20071 Bijlsma et al. 20092 Bachmann-Gagescu et al., 20106 Baarge-Schaapveld et al., 2011 Haltia, 200315 Our patient
Progression of vision loss until blindness na na na Patient too young to evaluate manifestations reliably na na + (Onset ∼2–5 years) + (Onset 9 years)
Deterioration in cognitive skills, speech and mobility na na na   na na + +
Seizures na na na   + na + (Onset 1 year) + + (Onset 9–18 years)
Premature death na na na   na na + na
Behavioral problems, extrapyramidal signs, and sleep disturbance na na na   + + + + + (Onset >10 years) +
Attention-deficit disorder na na na   + na + +   +
Autism spectrum disorder na na na   na na + +
Developmental delay (learning difficulties/intellectual disability, delayed language development) + + +   + na + + +
Unusual facial morphology na na na   + na +
Obesity + + +   + + +
Neonatal hypotonia na na na   na na + +
Congenital anomalies of the kidney and urinary tract na na na   + na +
Other major finding na na na   +a +b

Abbreviation: na, data not available.

a

Severe kyphosis.

b

Hirschprung disease and congenital joint contractures.