Boy with Jacobsen syndrome

Research Brief Spring 2017

Having a Son or Daughter with Jacobsen Syndrome/11q Deletion Syndrome: Perspectives of Parents

by Stephanie Meredith, Anthony Lobianco & Harold Kleinert

Jacobsen syndrome (JS) is a rare genetic condition that often causes intellectual disabilities and health issues and has recently been added to various cell-free DNA prenatal screening tests. This condition often includes multiple physical features, a blood disorder, serious congenital heart defects in about 56% of patients, and a range of intellectual disabilities (ID). Individuals may also experience mild to moderate impairment in expressive language, vision problems, digestive issues; and common infections of the upper respiratory system [Grossfeld, 2004]. However, because JS is relatively rare, psychosocial research has never been performed on this population. Correspondingly, a patient education resource about this condition has not yet been published that reflects “the medical and psychosocial implications of the diagnosis” identified as a priority in the ACMG guidelines when providing information to prospective parents learning about screening results.

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