Table 2 Clinical findings in patients with intragenic deletions/duplication in this study
Cases | Sex | Dysmorphism | Neurological problems | GDD/Autism/speech delay | Other organ abnormalities/disorders |
|---|---|---|---|---|---|
1 | F | None | None | GDD | Hypotonia, feeding problems, eczema, bilateral renal reflux and dilatation, episodes of fussiness and gassiness, chronic constipation, a diagnosis of Mowat-Wilson syndrome |
2 | M | Macrocephaly | None | GDD, Autism | Hypothyroid at birth, history of lactic acidosis |
3 | M | None | Epilepsy | None | Gastroesophageal reflux, voiding dysfunction and nocturnal enuresis, and adenoid hypertrophy |
4 | M | Severe microcephaly | Perinatal hypoxic ischemic encephalopathy with resultant severe cystic encephalomalacia, focal epilepsy, cerebral palsy, asymmetric spasticity | GDD, especially speech delay | None |
5 | F | None | None | None | Bicuspid aortic valve with aortic dilation, anomalous superior left pulmonary venous return |
6 | M | Macrocephaly | None | Severe GDD | Hypotonia, kyphosis |
7 | M | None | Encephalopathy | Alexia, dyslexia | Short stature |
8 | M | None | Epilepsy | Mild developmental delay, speech delay | Hypospadias |
9 | M | Macrocephaly | Poorly developed corpus callosum | Severe GDD | Hearing impairment, hypernatremia and renal insufficiency, a diagnosis of mild hemophilia A |
10 | F | None | None | None | Hypotonia, tracheal malasia, |
11 | F | Plagiocephaly and infantile torticolli | Epilepsy, abnormal EEG with a slow background and temporal spikes, and staring spells | GDD, especially speech delay | Hearing impairment |
12 | F | None | Epilepsy | Intellectual disability, aggressive behavior | None |
13 | M | Severe microcephaly and micrognathia | Epilepsy, ventriculomegaly | None | Paralyzed vocal cords, bilateral equinovarus, contractures of knees and hips bilaterally |
14* | M | None | None | NA | Atrioventricular canal, transposition of the great arteries, pulmonary valve atresia, supraventricular tachycardia, and congenital absence of spleen |