What chromosomal deletion is associated with Jacobsen Syndrome?

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Jacobsen Syndrome is specifically associated with a deletion on chromosome 11, particularly at the 11q terminal region. This genetic disorder arises due to the deletion of a portion of this chromosome and is characterized by a range of developmental delays, intellectual disability, distinctive facial features, and various physical health issues.

The significance of this deletion lies in its impact on gene function within the deleted region. Individuals with Jacobsen Syndrome often exhibit symptoms related to the loss of specific genes located at 11q, leading to the clinical manifestations observed.

The other options refer to different chromosomal deletions associated with other syndromes:

  • The deletion at 17p11.2 is related to Potocki-Lupski Syndrome and Smith-Magenis Syndrome.

  • The 22q11 deletion is known for causing DiGeorge Syndrome and Velocardiofacial Syndrome.

  • The more general term "17p deletion" could refer to various syndromes depending on the specific region affected.

These deletions exemplify the importance of precise chromosomal identification in diagnosing different genetic disorders, reinforcing that Jacobsen Syndrome is tied specifically to the deletion on chromosome 11q.

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