Description
This terminal deletion of 11q involves multiple genes and is expected to cause phenotypic and/or developmental abnormalities. It lies within a larger region associated with Jacobsen syndrome (OMIM 147791), a contiguous gene syndrome caused by partial 11q deletions of different sizes, ranging from 5 to 20 Mb. Common features of Jacobsen syndrome include intrauterine and postnatal growth restriction, psychomotor delay, facial dysmorphism, abnormal platelet function, thrombocytopenia, pancytopenia, congenital malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system, and skeleton. Less common features include vision, hearing, immune, and endocrine problems. Typically, Jacobsen syndrome is caused by deletion of multiple genes, however, deletion of BSX, NRGN, ETS1, FLI1, and ARHGAP32 have been shown to contribute to the full phenotype, while patients with smaller deletions not including all these genes may exhibit a subset of the clinical phenotypes and can be considered to have a \partial Jacobsen syndrome\" phenotype. The NRGN, ETS1, FLI1, and ARHGAP32 genes are involved in the current terminal deletion. References: Conrad et al. Am J Med Genet A. 2019;179(6):993-1000. PMID: 30888095. Favier et al. Am J Med Genet C Semin Med Genet. 2015;169C(3):239-50. PMID: 26285164. Mattina et al. Orphanet J Rare Dis. 2009;4:9. PMID: 19267933. Tassano et al. J Appl Genet. 2016;57(3):357-62. PMID: 27020790."
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | unknown | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |