계명대학교 의학도서관 Repository

The First Korean Case Report of Siblings with 12q24.22q24.33 Duplication

Metadata Downloads
Author(s)
Se Hwan MoonJung-Sook HaJun chul ByunHee Joung ChoiSo Yun Park
Keimyung Author(s)
Ha, Jung SookByun, Jun ChulChoi, Hee Joung
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Journal Title
Keimyung Med J
Issued Date
2024
Volume
43
Issue
1
Keyword
Attention deficit disorder with hyperactivityFetal growth retardationIntellectual disabilityMicroarray analysisTrisomy 12q
Abstract
Live-born cases of partial trisomy 12q are rare, and only a few fetuses with this unbalanced translocation have survived to term. To our knowledge, only about 40 patients have been reported as having 12q duplication, and among them are no Korean reports. Here, we report the first Korean case of siblings with a 12q24.22q24.33 duplication. An 11-year-old boy visited our clinic for short stature. He was born small for his gestational age and had distinctive facial features, a history of surgery for anorectal malformation, psychomotor delay, intellectual disabilities, and attention-deficit/hyperactivity disorder (ADHD). He had an older sister with similar clinical features. The chromosomal microarray of the patient and his sister showed identical results: a 16.2 Mb duplication of 12q24.22q24.33. They had an identical cutoff point, but their symptoms were not. Symptoms common to both included growth retardation, psychomotor delay, intellectual disability, ADHD, and small for their gestational age.
Authorize & License
  • Authorize공개
Files in This Item:

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.