Yonsei Med J.  2017 Nov;58(6):1241-1244. 10.3349/ymj.2017.58.6.1241.

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

• Rim JH
• Kim JA
• Yoo J

• KMID: 2418909
• DOI: http://doi.org/10.3349/ymj.2017.58.6.1241

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.

Keyword

19q13.32 duplication; developmental delay; array CGH

MeSH Terms

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

Figure

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  Fig. 1 (A) Karyotype analysis. Trypsin-Giemsa banded chromosome analysis at the 550-band level shows a normal karyotype, 46,XY[20]. (B) Genome analysis using the array-comparative genomic hybridization. Duplication within 19q13.32 region is observed. The size of duplication fragment was estimated to be 1.13 Mb (chr19:47147801-48276108). Duplicated segments and clinical features of 5 patients from DECIPHER database with duplicated segments within the affected region of our patient are comparatively presented below.

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