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Table 2 Clinical presentation of the seven patients with chromosomes 4p16.1 duplication and 3p26.3 microdeletion

From: A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

Case III:4 IV:8 IV:9 IV:2 IV:11 IV:1 IV:17
Age 40 20.5 16.7 16.1 14.1 11.7 7.9
Sex F M M F M M F
Developmental delay + + + - + + +
Intellectual disability Severe Mild Mild Mild Severe Mild Mild
Height (cm/SDS) 157/-1.1 179/0.2 172/-0.4 151/-2.0 130/-3.8 143/-0.3 122/-0.4
Head circumference (cm/SDS) 52/-2.5 55/-1.3/Mild 53.5/-1.9/ 53/-1.7 49/-4.1/ 51/-2.4/ 51/-1.5
Shape NAD Brachycephaly Brachycephaly NAD Trigonocephaly Brachycephaly NAD
Facial features Prominent supraorbital ridges & glabella; prominent midface; prognathism Mild prominence supraorbital ridges & glabella Prominent supraorbital ridges & glabella; prominent midface; mild prognathism Mild prominence of supraorbital ridges & glabella; prominent midface; prognathism Hypertelorism, Prominent midface; Flat broad nasal tip, low hanging columella NAD NAD
Highly arched eyebrows
Low frontal and nuchal hair line
Nose Prominent nasal tip Prominent nasal tip Prominent nasal tip Prominent nasal tip Broad high nasal bridge Flat nasal bridge NAD
Prominent nasal tip
Mouth Thin vermillion of the upper lip; High arched palate; cleft lip; gum hypertrophy NADa High arched palate NAD Short philtrum NAD NAD
Cleft lip
Ears Strabismus Low set ears Prominent ears, malformed helix Prominent, low set ears Low set ears; malformed helix Low set ears NAD
Hand deformity Campodactyly Campodactyly Long digits NAD Campodactyly Clindactily NAD
Feet deformity Pes cavus; inversion deformity of feet
Seizures + -b - - + - -
  1. aNAD- no abnormality detected; b- no seizures