ESPE Abstracts (2018) 89 P-P3-247

A Rare Chromosomal Disorder, Trisomy 4p

Merve Nur Hepokura, Zeynep Uzan Tatlıb, Gül Direkb, Leyla Akınb, Nihal Hatipoğlub, Mustafa Kendircib & Selim Kurtoğluc

aErciyes Unıversity Pediatric Endocrinology, Kayseri, Turkey; bRciyes Unıversity Pediatric Endocrinology, Kayseri, Turkey; cMemorial Hospital Pediatric Endocrinology, Kayseri, Turkey

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The genetic analyses revealed the diagnosis of 4p duplication syndrome.

Case Presentation: A 15-year-old male patient admitted to our clinic with complaints of growth in hands and feet which that have been noticed for the last 2 to 3 years. He had also delayed speech and psychistric analyses was consistent with attention deficit hyperactivity disorder since he was 4 years old. Based on the history his parents were third degree relatives and he has a cousin who was followed up with the diagnosis of autism. On physical examination, his body weight was 76.9 kg (75–90p) and height was 163.4 cm (10p). A high arched palate, an adenoid face and bilateral clinodactyly of fifth finger were also noticed. In laboratory work-up, basal GH (growth hormone) and IGF-1 (insulin-like-growth factor-1) levels were within normal limits. GH suppression was provided with OGTT (oral glucose tolerance test). Insulin resistance was not detected in clinical and laboratory findings. The IQ test was delayed. The patient’s pituitary MRI and visual field examination were also normal. A genetic review revealed a duplication of 4p16.3p16.1.

Discussion: Duplication of 4p16.3 is a rarely described chromosomal disease, also known as trisomy 4p syndrome in the literature. Genetic examination should be performed in patients with significant dysmorphic facial features along with speech and cognitive deficits, overgrowth syndrome and attention deficit hyperactivity disorder.

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