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GTR Home > Conditions/Phenotypes > Xq27.3q28 duplication syndrome

Xq27.3q28 duplication syndrome

Synonyms
Chromosome Xq27.3-q28 duplication syndrome
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Chromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Female carriers may have short stature and premature ovarian failure (summary by Rio et al., 2010). [from OMIM]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Cytogenetics Tests

Molecular Genetics Tests

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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