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Table 1 Clinical features of patients with 16p11.2 microdeletion syndrome

From: Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly

  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