Bloom&’s syndrome


Bloom&’s syndrome
Rare human autosomal recessive defect associated with genomic instability causing short stature, immunodeficiency and increased risk of all types of cancer. Caused by mutation of BLM locus on chromosome 15q. BLM protein has homology to helicases.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • Bloom's syndrome — a specific abnormality of chromosome 15 in which the individual suffers from recurrent infections, blistering areas of the hands and lips, and poor growth. Such children have a much higher than normal risk of developing cancer. D. Bloom (20th… …   Medical dictionary

  • Bloom's syndrome — a specific abnormality of chromosome 15 in which the individual suffers from recurrent infections, blistering areas of the hands and lips, and poor growth. Such children have a much higher than normal risk of developing cancer. [D. Bloom (20th… …   The new mediacal dictionary

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

  • 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

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

  • Syndrome de Bloom — Référence MIM 210900 Transmission Récessive Chromosome 15q26.1 Gène BLM Mutation Ponctuelle …   Wikipédia en Français

  • 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

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