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GTR Home > Conditions/Phenotypes > 11q partial monosomy syndrome

11q partial monosomy syndrome

Synonyms
Chromosome 11q deletion syndrome; Jacobsen Distal 11q Deletion Syndrome; Jacobsen Syndrome
Modes of inheritance
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Cytogenetics Tests

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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