17p13.3 Microduplication Syndrome: further delineating the clinical spectrum
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 BA...
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| Other Authors: | , , , , , |
| Format: | article |
| Published: |
2021
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| Online Access: | http://hdl.handle.net/10725/13795 https://doi.org/10.1055/s-0040-1713673 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0040-1713673 |
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| Summary: | 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. |
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