Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11
|Instance of|| rare disease,|
developmental defect during embryogenesis
|Subclass of|| syndromic constitutional thrombocytopenia,|
partial deletion of the long arm of chromosome 11
|Discoverer or inventor|| |
Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1.
Media in category "Jacobsen syndrome"
This category contains only the following file.
- Jacobsen syndrome patient.JPG 921 × 1,192; 553 KB