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

Chantal Farra; Lina Abdouni; Abeer Hani; Leyla Dirani; Layal Hamdar; Mirna Souaid; Johnny Awwad

doi:10.1055/s-0040-1713673

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

J Pediatr Genet. 2021 Sep;10(3):239-244. doi: 10.1055/s-0040-1713673. Epub 2020 Jul 20.

Authors

Chantal Farra¹, Lina Abdouni¹, Abeer Hani², Leyla Dirani³, Layal Hamdar⁴, Mirna Souaid¹, Johnny Awwad⁴

Affiliations

¹ Department of Pathology and Laboratory Medicine, Division of Medical Genetics, American University of Beirut Medical Center, Beirut, Lebanon.
² Department of Pediatrics and Internal Medicine, Lebanese American University, Beirut, Lebanon.
³ Department of Psychiatry, American University of Beirut Medical Center, Beirut, Lebanon.
⁴ Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.

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.

Publication types

Case Reports