Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

Overview

Journal Biomedicines

Specialty Biomedical Engineering

Date 2022 Dec 23

PMID 36551834

Authors

Jorge Diogo Da Silva

Diana Gonzaga

Ana Barreta

Hildeberto Correia

Ana Maria Fortuna

Ana Rita Soares

Nataliya Tkachenko

Affiliations

Soon will be listed here.

Abstract

The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/intellectual disability, behavioral disorders, autism spectrum disorder and variable dysmorphic features. Depending on the genes involved in the microduplication, it can be categorized in two subtypes with different phenotypes. Here, we report a case of a 7-year-old boy with global developmental delay, speech impairment, hypotonia, behavioral conditions (ADHD and ODD), non-specific dysmorphic features and overgrowth. Genetic testing revealed a small 17p13.3 chromosomal duplication, which included the , and genes. Additionally, we observed that this was maternally inherited, and that the mother presented with a milder phenotype including mild learning disabilities, speech impairment and non-specific dysmorphic features, which did not significantly affect her. In conclusion, we present a clinical case of a 17p13.3 duplication that further delineates the clinical spectrum of this syndrome, including its intrafamilial/intergenerational variability.

Citing Articles

A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.

Vittas S, Bisba M, Christopoulou G, Apostolakopoulou L, Pons R, Constantoulakis P Genes (Basel). 2023; 14(7).

PMID: 37510238 PMC: 10379727. DOI: 10.3390/genes14071333.

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