Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication

Table 1 Summary of the clinical features of the patients with 4p16.3 duplication overlapping with our patient

Clinical features	Present case	Hannes et al. [1]	Cyr et al. [2]
Sex and age at diagnosis	M, 13 years	M, 23 months	M, 9 months
Weight	>97th centile	< 3rd centile	30th centile
Height	90-97th centile	N.R.	30th centile
Head circumference	25th-50th centile	N.R.	>95th centile
Neurocognitive	Mild ID (IQ 68)	Unknown	Unknown
Neurologic	Delayed motor development and speech	Delayed motor development and speech, seizure, hypotonia	Delayed motor development, seizure
Neuropsychiatric	ADHD	N.R.	Too young
MRI	Normal	Delayed myelinisation	Dilatation of the lateral ventricles
Craniofacial
Macro/Microcephaly	N.R.	Unknown	Macrocephaly
Forehead	High	High	High
Frontal bossing	+	+	+
Epicanthal folds	+	+	+
Hypertelorism	+	-	+
Abnormal palpebral fissures	Narrow and long	Narrow and long	Downslanted
Nose	Normal	Normal	Broad nasal root and short nasal bridge
Low set/abnormal ears	Normal	Low-set and dysmorphic	Low-set and posteriorly rotated
Palate	High arched	High arched	Normal
Micrognathia	Present	Absent	Absent
Neck	Short	Short	Short
Musculoskeletal	Scoliosis, bilateral flatfoot	Small hands and feet, malformations of the right hand	N.R.
Others	Hyperopia, dental abnormalities, gynecomastia	Glaucoma (left eye), hypoacusis of the right ear	Irregular iris pigmentation-heterochromia, hyperopia

+, present; −, absent; ID, intellectual disability; ADHD, attention deficit hyperactivity disorder; N.R., not reported.

ISSN: 1755-8166