Jacobsen syndrome

Jacobsen syndrome is a congenital disorder caused by deletion of genetic material from the long arm of chromosome 11. It can affect development, physical features, and blood clotting.

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Chromosome 11: Chromosome 11 is one of the 23 pairs of chromosomes in human cells. Jacobsen syndrome results from loss of material at the end of its long arm.
Chromosome: A chromosome is a DNA-containing structure that carries genes and other genetic material. The syndrome is defined by a structural loss from one chromosome.
Chromosomal microarray analysis: Chromosomal microarray analysis detects genome-wide DNA copy-number changes at higher resolution than a standard karyotype. It is commonly used to confirm the deletion and define its extent.
Miller-Dieker syndrome: Miller-Dieker syndrome is a congenital disorder commonly caused by a deletion on chromosome 17p that includes PAFAH1B1. It is another contiguous-gene deletion syndrome, but affects a different chromosome region and brain development.
Thrombocytopenia: Thrombocytopenia is a lower-than-normal number of platelets in the blood. Low platelet counts can contribute to bleeding in Jacobsen syndrome.
Terminal deletion: A terminal deletion is the loss of DNA extending from a chromosome’s end to a breakpoint. Most Jacobsen syndrome deletions remove the terminal part of chromosome 11’s long arm.
Chromosome 11q: Chromosome 11q is the long arm of chromosome 11, extending from its centromere to its end. The deletion defining Jacobsen syndrome occurs on this chromosome arm.
Karyotype: A karyotype is an organized image of an individual’s chromosomes used to assess their number and large-scale structure. It may detect a large chromosome 11 deletion or a chromosome rearrangement.
Cri-du-chat syndrome: Cri-du-chat syndrome is a congenital disorder caused by deletion of genetic material from chromosome 5p. It offers a comparison with a deletion syndrome defined by a different chromosome arm.
Congenital heart defect: A congenital heart defect is a structural abnormality of the heart present at birth. Heart defects are among the medical complications associated with the syndrome.