The deletion that causes this disease can remove up to six different genes. Required fields are marked *. This section provides resources to help you learn about medical research and ways to get involved. Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. PMID 21084979, Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. all the symptoms listed. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. They may be able to refer you to someone they know through conferences or research efforts. Name: Koolen De Vries syndrome (disorder) We want to hear from you. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. The microdeletion, which spans from 500-650 kb, arises as a de novo consequence of a 900 kb polymorphic inversion (H2), of which one of the parents is invariably found to be carrier. (HPO). [3], Rare genetic disorder caused by a deletion of six genes, Corticotropin releasing hormone receptor 1, "Clinical and molecular delineation of the 17q21.31 microdeletion syndrome", "Evolutionary toggling of the MAPT 17q21.31 inversion region", "Koolen de Vries syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program", "Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome", "Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype", Acute myeloblastic leukemia with maturation, 46,XX testicular disorders of sex development, https://en.wikipedia.org/w/index.php?title=17q21.31_microdeletion_syndrome&oldid=975366330, Short description is different from Wikidata, Creative Commons Attribution-ShareAlike License, Koolen–De Vries syndrome, Koolen de Vries syndrome, Koolen De Vries syndrome, This page was last edited on 28 August 2020, at 03:31. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, Upward slanting of the opening between the eyelids, Joints move beyond expected range of motion, Aortic valve has two leaflets rather than three, Failure of development of between one and six teeth, Displacement of one backbone compared to another, Bulge in wall of root of large artery that carries blood away from heart, An opening in the wall separating the top two chambers of the heart, Hole in heart wall separating two upper heart chambers, Hole in heart wall separating two lower heart chambers, Underdevelopment of part of brain called corpus callosum. Visit the group’s website or contact them to learn about the services they offer. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. Wright EB, Donnai D, Johnson D, Clayton-Smith J. Clin Dysmorphol. The full SNOMED CT dataset is available in the UK via the You also have the option to opt-out of these cookies. We also use third-party cookies that help us analyze and understand how you use this website. Autosomal recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed faces, and seizures. (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation This deletion syndrome was discovered independently in 2006 by three different research groups. The recurrent deletion is between 500 and 650 kilobases (Kb) in size encompassing at least six genes, among them the microtubule-associated protein tau (MAPT).

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