Skip to main content

Table 1 Clinical features of the duplication 4p16.3 cases

From: 18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature

Clinical features Present case Cyr et al. [13] Palumbo et al. [8]
Duplication positions 71,566–1,883,647 1,326,373-1,832,617 1,405,662-1,798,461
Other chromosome anomalies Terminal deletion of 18q22.1
Gestational age (weeks) 39 38–4/7 Unknown
Sex and age at diagnosis M, 23 months M, 9 months M, 13 years
Weight < 50th centile 30th centile > 97th centile
Height > 75th centile 30th centile 90-97th centile
Head circumference > 75th centile > 95th centile 25-50th centile
 Speech delay Yes (severe) Yes Yes
 Developmental delay Yes Yes Yes
 seizure No Yes No
 Sensory Integration Dysfunction (squinting while running) Unknown Dysfunction (ADHD)
 Short stature/failure to thrive No Yes No
MRI Unknown Dilatation of the lateral ventricles Normal
 Macro/microcephaly No Yes (Macrocephaly) No
 Frontal bossing Yes Yes Yes
 Hypertelorism Yes Yes Yes
 Epicanthal folds Yes Yes Yes
 palpebral fissures Normal Narrow and long Downslanted
 Eyes Normal Iris heterochromia; hyperopia Hyperopia
 Ears Low-set and dysmorphic Low-set and posteriorly rotated Normal
 Nose Broad nasal root and short nasal bridge Broad nasal root and short nasal bridge Normal
 Palate Normal Normal High arched
 Retrognathia/micrognathia No No Yes
 Neck Short Short Short
 Hypotonia/ Hypertonia Yes (Hypotonia) No No
 Balance difficulty Yes No Unknown
 Upper/Lower extremity Longer fourth toe of the right foot Bridged palmar crease, syndactyly, Bilateral flatfoot
 Others Umbilical hernia Prominent fetal pads; slightly more hair in the lumbosacral region Scoliosis, dental abnormalities,
  1. ADHD Attention deficit hyperactivity disorder