Jacobsen Syndrome

Term ID

DOID:0111723

Synonyms

• chromosome 11q deletion syndrome
• Jacobsen distal 11q deletion syndrome
• partial 11q monosomy syndrome

Definition

A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. https://www.ncbi.nlm.nih.gov/pubmed/4134631

References

• GARD:307
• MESH:D054868
• OMIM:147791
• ORDO:2308

Ontology

Human Disease   ( DOID:0111723 )