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Table 1 Clinical Features of the patients with 14q24.1q24.3 deletion

From: Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

Clinical features Present case Patient 1 Oehl-Jaschkowitz et al., [1] Patient 2 Oehl-Jaschkowitz et al., [1] Patient 3 Oehl-Jaschkowitz et al., [1]
Position of 14q24 deletion (hg19) chr14:69,500,246-74,852,834 chr14:69,379,727-74,826,674 chr14: 68,609,319-70,919,016 chr14:68,816,535-71,659,567
Size of 14q24 deletion 5.3 Mb 5.4 Mb 2.3 Mb 2.8 Mb
Sex Male Male Male Female
Seizures + - - -
Bronchopulmonary anomalies Respiratory insufficiency. Bronchial hyperactivity Asthma - -
Congenital heart disease Atrial septal defect Atrial septal defect Pulmonary atresia with a ventricular septal defect, anteriorly-set aorta and severe stenosis of the pulmonary arterial confluence Trunctus arteriosus
Facial dysmorphisms Broad and sparse eyebrows, convergent strabismus, broad nasal bridge and hypertelorism, nose with columella and naris broad, ears with prominent helix and antihelix and large lobe, long philtrum, thin upper lip, short neck, low set posterior hairline Hypertelorism, high nasal bridge, long and flat philtrum, thin upper lip. Hypertelorism, small nose, thin upper lip, downslanting palpebral fissures. Hypertelorism, mild synophrys, epicanthic folds and downslanting palpebral fissures, midface hypoplasia, thin lips
Hand and foot anomalies Short fingers and nails of feet and hands, broad toes and thumbs, valgus -flat feet Bilateral hypoplastic thumbs, short and tapering fingers and cutaneous syndactyly of the fingers. Very small hands that were narrow across the metacarpophalangeal joints and proximally-set thumbs. The feet were small with minimal 2-3 toe syndactyly and an over-curved 4th toenail bilaterally. -
Pychomotor delay + - - +
Developmental delay - + + +
Language delay + + + +
Attention deficiency and hyperactivity + NR NR NR
Intellectual disability + Mild + +
Skeletal malformations Pectus excavatum, joint hyperlaxity of lower limbs, valgus-flat feet Limited extension and supination of elbows Short arms, limited elbow extension with bilateral dislocation of the radial heads Hyperlaxity of the fingers and elbows
Brain abnormality Mild symmetrical enlargement of supratentorial ventricular cavities and enlargement of fronto-insular periencephalic spaces NR NR NR
  1. NR = not reported.