Bloom syndrome

Bloom syndrome
an autosomal recessive syndrome consisting of erythema and telangiectasia in a butterfly distribution on the face, photosensitivity, and well-proportioned dwarfism of prenatal onset. Immunoglobulins show abnormalities and there is a high incidence of malignancy, especially leukemia. Many patients are of Ashkenazi Jewish ancestry, due to a founder effect. The genome is unusually unstable in somatic cells, with an excess of sister chromatid exchange, and is characterized by chromosome abnormalities including breaks, gaps, rearrangements, and other mutations; it is caused by mutations in a gene (BLM) that encodes a specific DNA helicase.

Medical dictionary. 2011.

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  • Bloom syndrome — Bloom syndrome. См. синдром Блума. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Bloom syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 1505 ICD10 = ICD9 = ICD9|757.39 ICDO = OMIM = 210900 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 54 MeshID = D001816 Bloom syndrome (BLM) [OMIM|210900] is a rare autosomal recessive… …   Wikipedia

  • Bloom syndrome protein — Bloom syndrome, also known as BLM, is a human gene. PBB Summary section title = summary text = The Bloom syndrome gene product is related to the RecQ subset of DExH box containing DNA helicases and has both DNA stimulated ATPase and ATP dependent …   Wikipedia

  • Bloom syndrome — (bl m) [David Bloom, American dermatologist, 20th century] see under syndrome …   Medical dictionary

  • Bloom syndrome — noun A particular genetic disease; its most apparent symptom is stunted growth …   Wiktionary

  • Bloom syndrome — genetic disease characterized by retardation of growth, abnormal immune function …   Eponyms, nicknames, and geographical games

  • Syndrome de bloom — Référence MIM 210900 Transmission …   Wikipédia en Français

  • Bloom-Syndrom-Protein — Masse/Länge Primärstruktur 1417 Aminosäuren …   Deutsch Wikipedia

  • Syndrome — Pour les articles homonymes, voir syndrome (homonymie). Un syndrome est un ensemble de signes cliniques et de symptômes qu un patient est susceptible de présenter lors de certaines maladies, ou bien dans des circonstances cliniques d écart à la… …   Wikipédia en Français

  • Syndrome, Werner — A premature aging disease that begins in adolescence or early in adulthood and results in apparent old age by 30 40 years of age. The characteristic features of Werner syndrome include short stature, premature graying and balding, wizened face,… …   Medical dictionary

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