Contiguous gene syndrome

Contiguous gene syndrome

Unter einem Contigous gene-Syndrom versteht man in der Genetik ein Syndrom, an dessen Ausprägung mehrere benachbarte Gene beteiligt sind. Es handelt sich hierbei um kleine strukturelle Chromosomenaberrationen bzw. Genmutationen, insbesondere um Deletionen und seltener um Duplikationen, die durch einen spezifischen komplexen Phänotyp charakterisiert sind. Das ursächlich betroffene DNA-Segment umfasst mehrere, in einer Chromosomenregion aneinandergrenzende Gene, die unabhängig voneinander zum Phänotyp beitragen.

Vorkommen

Quellen


Wikimedia Foundation.

Игры ⚽ Поможем решить контрольную работу

Schlagen Sie auch in anderen Wörterbüchern nach:

  • Contiguous gene syndrome — A disorder clearly involving multiple gene loci that are adjacent to one another. An example of a contiguous gene syndrome is Angelman syndrome. It is due to the loss of a series of genes from a region of chromosome 15 termed 15q13 15. (The… …   Medical dictionary

  • Contiguous gene syndrome — A contiguous gene syndrome is a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome. Prader Willi Syndrome, which is caused by the microdeletion of 15q11 13, is a common example. Prader Willi… …   Wikipedia

  • Syndrome, contiguous gene — A disorder clearly involving multiple gene loci that are adjacent to one another. An example of a contiguous gene syndrome is Angelman syndrome. It is due to the loss of a series of genes from a region of chromosome 15 termed 15q13 15. (The… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Potocki-Lupski syndrome — (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2).[1] The duplication was …   Wikipedia

  • DiGeorge syndrome — 22q11.2 deletion syndrome Classification and external resources Brain computer tomography cuts of t …   Wikipedia

  • segmental aneusomy syndrome — contiguous gene s …   Medical dictionary

  • Short stature homeobox gene — or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). PathologyThe gene was first found during a search for the cause of short stature… …   Wikipedia

  • Craniofrontonasal syndrome — Classification and external resources OMIM 304110 Craniofrontonasal syndrome is an X linked syndrome which is more severe in females than males. Often males will have only hypertelorism (far apart eyes), whereas females have frontonasal dysplasia …   Wikipedia

  • WAGR syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 14025 ICD10 = ICD9 = ICDO = OMIM = 194072 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2423 MeshID = D017624 WAGR syndrome is a rare genetic syndrome in which affected children are… …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”