Bloom syndrome

Medical condition Bloom syndrome (BLM), also known as Bloom–Torre–Machacek syndrome , is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes . The condition was discovered and first described by dermatologist Dr. Andrews' Diseases of the Skin: Clinical Dermatology . "A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene". PMID 9482582 . : Cite has empty unknown parameter: |month= ( help ) CS1 maint: multiple names: authors list ( link ) Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity". American journal of diseases of children . 88 (6): 754– 8.

Medical condition Bloom syndrome (often abbreviated as BS in literature), also known as Bloom–Torre–Machacek syndrome , is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer and genomic instability. BS is caused by mutations in the BLM gene leading to mutated DNA helicase protein formation. 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. Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). "A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene". Journal of Cell Biology . "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity".

Medical condition 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. Bloom syndrome has also appeared in the older literature as Bloom–Torre–Machacek syndrome . "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity". Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.).

Genetic disorder Medical condition 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 genes encoding 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 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). David Bloom discovered and first described the condition in 1954. Bloom syndrome has also appeared in the older literature as Bloom–Torre–Machacek syndrome . "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity". Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.).