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Table 1 Diagnostic yields in patients categorized by ID severity and co-occurring conditions

From: Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

I. Based on ID severity
  total P# Yield P-value
Mild 140 27 19% 0.08
Moderate 105 23 22%
Severe 85 28 33%
Profound 15 2 13%
Not categorized 365 121 33% /
II. Based on co-occurring conditions present in > 50 patients, with statistical analysis performed
  With select condition Without select condition Odds ratio P-value
total P# Yield total P# Yield
SSa 201 65 32% 136 30 22% 1.69 0.048
CHDb 98 54 55% 110 20 18% 5.52 2.66E-08
Gonadal dysplasia 50 18 36% 103 20 19% 2.33 0.03
Skeletal malformation 62 16 26% 24 3 13% 2.44 0.251
Facial dysmorphism 201 79 39% 194 39 20% 2.57 4.27E-05
Microcephaly 128 43 34% 140 25 18% 2.33 0.0033
Brain malformation 147 36 24% 148 29 20% 1.33 0.328
Epilepsy 62 15 24% 115 23 20% 1.28 0.567
Hypotonia 54 19 35% 113 18 16% 2.87 0.00613
Pre/peri-natal problems 160 50 31% 234 50 21% 1.67 0.034
SS + dysmorphism 79 30 38% 71 9 13% 4.22 6.70E-04
SS + microcephaly 66 25 38% 74 14 19% 2.61 0.015
SS + brain malformation 56 17 30% 45 9 20% 1.74 0.261
CHD + dysmorphism 50 31 62% 61 8 13% 10.81 9.10E-08
III. Based on co-occurring conditions present in < 50 patients
  total P# Yield   total P# Yield
Family history 38 7 18% Macrocephaly 14 2 14%
Autism 20 3 15% Hypertonia 26 6 23%
Muscle weakness 10 4 40% Cleft lip/palate 8 7 88%
Obesity 16 10 63% Low weight 47 23 49%
Ocular/auditory anomalies 50 8 16% Kidney/urinary tract anomalies 12 5 42%
Gastrointestinal anomalies 10 3 30% Respiratory tract anomalies 6 4 67%
Abnormal blood biochemistry 33 9 27% Karyotypical abnormalities 26 24 92%
  1. aSS-short stature; bCHD-congenital heart defects
  2. P# number of patients with pCNVs identified, Odds ratio yielding pCNVs in patients with select condition versus without select condition, based on fisher’s exact; p-value < 0.01, two-tailed were displayed in bold