Table 4 Correlations between single and combined clinical features and pathogenic and negative aCGH results are shown
Clinical signs, dysmorphic features | aCGH results (number) | Â | ||
|---|---|---|---|---|
Negative (115) | Pathological (60) | Overall (175) | p | |
Intellectual Disability | 83 (72.2) | 49 (81.7) | 132 (75.4) | 0.166 |
Autism Spectrum Disorders | 13 (11.3) | 14 (23.3) | 27 (15.4) | 0.037 |
Familiarity for ID/MCA/ASD | 3 (2.6) | 9 (15) | 12 (6.9) | 0.002 |
Prenatal perinatal problems | 17 (14.8) | 9 (15) | 26 (14.9) | 0.934 |
Short stature | 21 (18.3) | 12 (20) | 33 (18.9) | 0.781 |
Tall stature | 3 (2.6) | 1 (1.7) | 4 (2.3) | 1.000 |
Macrocephaly | 8 (7) | 4 (6.7) | 12 (6.9) | 1.000 |
Microcephaly (or craniosynostosis) | 30 (26.1) | 16 (26.7) | 46 (26.3) | 0.934 |
Forehead and Eyebrows dysmorphisms | 41 (35.7) | 21 (35) | 62 (35.4) | 0.932 |
Eyes, palpebral fissures and eyelashes dysmorphisms | 53 (46.1) | 36 (60) | 89 (50.9) | 0.081 |
Nose and philtrum dysmorphisms | 40 (34.8) | 23 (38.3) | 63 (36) | 0.642 |
Oral region, teeth and tongue dysmorphisms | 45 (39.1) | 28 (46.7) | 73 (41.7) | 0.337 |
Ears dysmorphisms | 43 (37.4) | 24 (40) | 67 (38.3) | 0.736 |
Neck and thorax anomalies | 21 (18.26) | 14 (23.73) | 35 (20.11) | 0.394 |
Upper and lower limbs, hands, feet dysmorphisms | 24 (20.9) | 12 (20) | 36 (20.6) | 0.893 |
Hearing Loss | 15 (13) | 13 (21.7) | 28 (16) | 0.140 |
Gastrointestinal malformations | 15 (13) | 5 (8.3) | 20 (11.4) | 0.353 |
Brain Malformations | 13 (11.3) | 8 (13.3) | 21 (12) | 0.695 |
Neurologic signs (Epilepsy, hypertonia, hypotonia, paresis) | 15 (13) | 4 (6.7) | 19 (10.9) | 0.198 |
Cardiac malformations | 36 (31.3) | 23 (38.3) | 59 (33.7) | 0.350 |
Pulmonary malformations | 2 (1.7) | 1 (1.7) | 3 (1.7) | 1.000 |
Kidney and urinary tract anomalies | 3 (2.6) | 1 (1.7) | 4 (2.3) | 1.000 |
Abnormal external genitalia | 15 (13) | 7 (11.7) | 22 (12.6) | 0.794 |
Eye malformations | 12 (10.4) | 7 (11.7) | 19 (10.9) | 0.804 |
Vertebral anomalies | 29 (25.8) | 14 (23) | 43 (24.57) | 0.718 |
Skeletal dysplasia | 7 (6.1) | 3 (5) | 10 (5.7) | 1.000 |
Haematological abnormalities | 2 (1.7) | 3 (5) | 5 (2.9) | 0.219 |
Nails and hair anomalies | 16 (13.9) | 6 (10.2) | 22 (12.6) | 0.482 |
Alterated skin pigmentation | 8 (7) | 9 (15) | 17 (9.7) | 0.088 |
Skin hemangioma | 3 (2.6) | 1 (1.7) | 4 (2.3) | 1.000 |
Endocrinological anomalies | 9 (7.8) | 9 (15) | 18 (10.3) | 0.138 |