TAR syndrome

Etiology

 1q21.1 deletion

• A microdeletion involving 11 genes on chromosome 1q21.1 has been found to be necessarcy but not sufficient to cause the thrombocytopenia-absent redius syndrome. (17236129)

References

 Uhrig S, Schlembach D, Waldispuehl-Geigl J, Schaffer W, Geigl J, Klopocki E, Mundlos S, Speicher MR. Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. Am J Hum Genet. 2007 Oct;81(4):866-8. PMID: 17847015

 Klopocki, E.; Schulze, H.; Strauss, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M.; Habenicht, R.; Konig, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Horn, D.; Mundlos, S. : Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80: 232-240, 2007. PubMed ID : 17236129