Table 1 Clinical features of patients with 16p11.2 microdeletion syndrome
Proband #1 | Proband #2 | Proband #3 | |
|---|---|---|---|
Sex | Female | Female | Male |
Age at diagnosis (first admission due to other symptoms) | 5.5 years | 1 months | 2 years |
Gestational age (weeks) | 40 | 40 | 36 |
Birth weight (g) | 3330 | 2930 | 2680 |
Weight (kg) | 37 | Not available | 12.5 |
Head circumference after birth (cm) | 34 | Not available | 33 |
Cognitive/behavioural developmental differences | Moderate intellectual disability, behavioural disorders—obstinacy, rebelliousness, episodes of eating inedible things, suspected ASD | Undeterminable due to young age | Motor developmental delay |
Speech delay | Yes motor aphasia | Undeterminable due to young age | Yes |
Motor delay | Yes | Undeterminable due to young age | Sitting at age of 11 months, walking at age of 19 months |
Craniofacial dysmorphic features | Macrocephaly Narrow forehead Hypotelorism Flattened face profile Retracted chin Upslanting palpebral Fissures Almond-shaped palpebral fissures Short nasal bridge Down-turned corners of the mouth High arched palate Thickened helix of auricles | Retracted forehead Long palpebral fissures Wide nasal bridge Tenuous upper lip Small mandible Retracted chin | Macrocephaly Protruding frontal and parietal tubers Flattened face profile Oblique, narrow palpebral fissures Low-set and wide, short nasal bridge Wide philtrum Small retracted chin Auricles rotated backwards High arched palate Oblique occiput Thickened frontal seam |
Brain abnormalities | EEG—small localized temporal lesions | Features of first-degree intraventricular hemorrhage | Not present |
Muscle tone disorders | Hypotonia | Not present | Hypotonia |
Hand /foot abnormalities | Short hands and feet, hands and feet brachydactyly, partial syndactyly of the toes 2nd and 3rd toes, knock-knees | Clinodactyly of 5th fingers | Small hands, adducted feet |
Seizures | Drug-resistant epilepsy, the patient treated with levetiracetam | Not present | Not present |
Cardiac abnormalities | Not present | Right heart dilatation, features of pulmonary hypertension, patent ductus arteriosus with left–right flow, foramen ovale | Not present |
Other | Severe obesity, increased but selective appetite, 2 café au lait spots—5–6 mm in diameter, squint, tooth decay, hyperinsulinism in oral glucose tolerance test, relatively low morning cortisol level with the absence of clinical symptoms, dyslipidemia, slight liver and spleen enlargement, nose—Moraxella catarrhalis | Breathing problems due to congenital pneumonia, thrombocytopenia, transfusiological suspicion of thrombosis at the central venous catheter implantation place | Bronchial asthma, umbilical hernia |
Prenatal interview | Pregnancy complicated by maternal hypertension | Pregnancy complicated by hypertension and maternal urinary tract infections, a history of positive test for group B β-hemolytic streptococci | Mother's nicotinism |
Family history of deletions | Negative family history | Negative family history | Not available due to adoption |