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telangiectatic$82009$ - vertaling naar italiaans

RARE GENETIC DISORDER WITH SHORT STRATURE AND PREDISPOSITION TO CANCER
Bloom's Syndrome; Bloom’s Syndrome; Bloom's syndrome; Bloom–Torre–Machacek syndrome; Bloom Syndrome; Bloom-Torre-Machacek syndrome; Congenital telangiectatic erythema; Bloom's Syndrome Registry
  • An individual with Bloom syndrome

telangiectatic      
adj. allargamento dei vasi capillari (in medicina)

Definitie

telangiectasia
[t??land???k'te?z??]
(also telangiectasis t??land??'?kt?s?s)
¦ noun Medicine a condition characterized by dilatation of the capillaries, causing them to appear as small red or purple clusters on the skin or the surface of an organ.
Derivatives
telangiectatic adjective
Origin
C19: mod. L., from Gk telos 'end' + angeion 'vessel' + ektasis 'dilatation'.

Wikipedia

Bloom syndrome

Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the BLM gene which is a member of the RecQ DNA helicase family. Mutations in other members of this family, namely WRN and RECQL4, are associated with the clinical entities Werner syndrome and Rothmund–Thomson syndrome, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition.

Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges (SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.

Bloom syndrome has also appeared in the older literature as Bloom–Torre–Machacek syndrome.