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Table 2 Phenotypes of 16 pediatric patients with 17p11.2 duplication

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

  7p11.2 duplication cases Frequency
Case number 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16*  
Gender Female Male Male Male Male Male Female Female Female Female Male Male Female Male Male Male NA
Age# 7 years 5 months 7 years 16 months 2 years 2 years 9.5 years 9 months 2.5 years 1 years 7 years 8 months 9 years 40 days 18 months 9 months NA
Height (cm)$ ( percentile) 122.5 (50th) 68 (75th) 119 (25th) 79.5 (50th) 90 (75th) 88 (50th) 135 (50th) 71.5 (50th) 90 (25th) 77 (75th) 122 (50th) 69.5 (50th) 117.5 (< 3rd) 54.5 (50th) 78.5 (25th) 70 (25th) 1 (short stature)/16
Neurobehavioral
Motor delay  ×   ×   ×     ×   ×   ×   ×   ×  8/16
Intellectual disability  ×   ×   ×   ×   ×   ×   ×   ×  8/16
Language delay  ×   ×   ×   ×   ×     ×   ×  7/16
Global developmental delay  ×   ×   ×   ×   ×  5/16
Attention deficit  ×     ×   ×   ×  4/16
Muscular hypotonia  ×   ×   ×  3/16
Stiff expression  ×   ×   ×  3/16
Hyperactivity  ×   ×  2/16
Autism spectrum disorder  ×  1/16
Sleep disturbance  ×    1/16
Ocular
Strabismus  ×   ×  2/16
Amblyopia  ×    1/16
Glaucoma  ×  1/16
Craniofacial/Skeletal
Ptosis  ×  1/16
Others                  
Cryptorchidism  ×   ×  2/16
Descending cerebellar tonsil  ×  1/16
Hydrocephalus  ×  1/16
Arachnoid cyst of greater occipital pool  ×  1/16
  1. * This child had both 17p11.2 duplication and 22q11.2 duplication. # 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