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A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Reports

Authors
 John Hoon Rim  ;  Jeong A Kim  ;  Jongha Yoo 
Citation
 YONSEI MEDICAL JOURNAL, Vol.58(6) : 1241-1244, 2017 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2017
MeSH
Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 19/genetics* ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics* ; Gene Duplication* ; Gene Expression Regulation, Developmental ; Genetic Association Studies ; Humans ; Male ; Microcephaly/genetics* ; Trisomy
Keywords
19q13.32 duplication ; array CGH ; developmental delay
Abstract
Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient with a novel 1.13 Mb direct interstitial duplication within 19q13.32, which is the smallest fragment affected so far. A five-year old Korean boy of healthy parents presented with microcephaly, growth retardation, developmental delay, and craniofacial dysmorphism. Even though G-banded chromosome analysis at resolution of 550-band revealed normal karyotype, duplication of 1.13 Mb fragment within 19q13.32 was detected by array comparative genomic hybridization. Comparing with previously reported patients with pure duplication involving 19q as a sole chromosomal abnormality, our case showed the smallest duplication segment with relatively mild degree of clinical features. Our present case might serve as the landmark case among patients with 19q duplication for genotype-phenotype correlation study and further identification of critical region for 19q duplication abnormalities.
DOI
10.3349/ymj.2017.58.6.1241
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Rim, John Hoon(임정훈) ORCID logo https://orcid.org/0000-0001-6825-8479
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/166166
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