Skip to main content

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.