" /> Jacobsen syndrome - CISMeF





Preferred Label : Jacobsen syndrome;

Symbol : JBS;

CISMeF acronym : JBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Partial 11q monosomy syndrome; Chromosome 11q deletion syndrome;

Inheritance : Isolated cases;

Molecular basis : Caused by a deletion of 11q23;

Laboratory abnormalities : Partial deletion of long arm of chromosome 11 (11q23-qter);

Prefixed ID : #147791;

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03/05/2025


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