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J Pediatr Genet 2021; 10(03): 239-244
DOI: 10.1055/s-0040-1713673
Case Report

17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum

Chantal Farra
1   Department of Pathology and Laboratory Medicine, Division of Medical Genetics, American University of Beirut Medical Center, Beirut, Lebanon
,
Lina Abdouni
1   Department of Pathology and Laboratory Medicine, Division of Medical Genetics, American University of Beirut Medical Center, Beirut, Lebanon
,
Abeer Hani
2   Department of Pediatrics and Internal Medicine, Lebanese American University, Beirut, Lebanon
,
Leyla Dirani
3   Department of Psychiatry, American University of Beirut Medical Center, Beirut, Lebanon
,
Layal Hamdar
4   Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon
,
Mirna Souaid
1   Department of Pathology and Laboratory Medicine, Division of Medical Genetics, American University of Beirut Medical Center, Beirut, Lebanon
,
Johnny Awwad
4   Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon
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Abstract

17p13.3 microduplication syndrome has been associated with a clinical spectrum of phenotypes, and depending on the genes involved in the microduplication, it is categorized into two classes (Class I and Class II). We herein, describe two patients diagnosed with Class I 17p13.3 microduplication by BACs-on-Beads (BoBs) assay and further confirmed by fluorescence in situ hybridization (FISH). Our patients (Patient 1: 4-year-old male; Patient 2: 2-year-old male) presented with developmental delay, intellectual disability, and dysmorphic facial features. When compared with the literature, our patients manifested distinctive features (Patient 1: primary hypothyroidism; Patient 2: bilateral cryptorchidism) that were not previously described in the duplication 17p13.3 spectrum.

Keywords

17p13.3 microduplications - developmental delay - dysmorphic features

Supplementary Material



Publication History

Received: 09 October 2019

Accepted: 05 May 2020

Article published online:
20 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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