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GTR Home > Conditions/Phenotypes > Deletion of long arm of chromosome 18

Deletion of long arm of chromosome 18

Synonyms
18q syndrome; CHROMOSOME 18q DELETION SYNDROME; Chromosome 18 deletion syndrome; Chromosome 18, monosomy 18Q; Chromosome 18q syndrome; Monosomy 18q syndrome; Monosomy 18q, deletion 18q
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders. [from ORDO]

Available tests

13 tests are in the database for this condition.

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Clinical tests (13 available)

Cytogenetics Tests

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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