Synonyms: Dup(X)(q27.3q28) | Trisomy Xq27.3-q28 | Trisomy Xq27.3q28 | Xq27.3-q28 microduplication syndrome
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature hypogonadism developmental delay and facial dysmorphism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Xq27.3q28 duplication syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
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