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Table 1 Phenotypes of 12 pediatric patients with 17p11.2 deletion

From: Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

  17p11.2 deletion cases Frequency
Case number
Gender
Age*
1
Female
7 years
2
Male
5 years
3
Male
10 years
4
Male
5 years
5
Male
5 years
6
Female
9.5 years
7
Female
30 days
8
Female
1 years
9
Male
19 months
10
Male
4 years
11
Male
3.5 years
12
Male
9.5 years
NA
NA
Height (cm)# ( percentile) 111 (< 3rd) 110.5 (50th) 121 (< 3rd) 113 (75th) 111 (50th) 134 (25th) 52.5 (50th) 75 (50th) 83 (75th) 103.5 (50th) 95.5 (25th) 130 (10th) 2(short stature)/12
Neurobehavioral
Language delay  ×   ×   ×   ×   ×   ×   ×   ×  8/12
Motor delay  ×   ×   ×   ×   ×   ×   ×   ×  8/12
Intellectual disability  ×   ×   ×   ×  4/12
Hyperactivity  ×   ×  -  ×  3/12
Attention deficit  ×   ×  -  ×  3/12
Autism spectrum disorder  ×   ×  2/12
Cognitive impairment  ×  1/12
Global development delay  ×  1/12
Temper tantrums  ×    1/12
Sleep disturbance  ×  1/12
Craniofacial/Skeletal
Wide eye distance  ×   ×   ×  3/12
Depressed nasal bridge  ×  1/12
Lateral canthus upwarping  ×  1/12
Square-shaped face  ×  1/12
Cleft lip/palate  ×  1/12
Tongue protrusion  ×  1/12
Antijaw  ×  1/12
Heavy eyebrows  ×  1/12
Cubitus valgus  ×  1/12
Rickets  ×  1/12
Immunologic
Maxillary sinusitis  ×   ×  2/12
Sphenoid sinusitis  ×  1/12
Others
Cardiac defects  ×   ×  3/12
Leukodystrophy  ×  1/12
Gallstone  ×  1/12
Tracheoesophageal fistula  ×  1/12
Arachnoid cyst of greater occipital pool  ×  1/12
  1. * The age provided was the age at the time the sample was submitted for MLPA test. # Height was measured when the sample was submitted for MLPA test. “ × ” indicates the phenotype is present in the patient; “–” indicates the phenotype is absent in the patient; “NA” indicates not available