It was first described by a dermatologist in New York, David Bloom (1954), under the title Congenital telangiectatic erythema resembling lupus erythematodes in dwarfs ( 1 ). Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. Bloom syndrome ( MIM 210900) is a human hereditary disease. Women may be fertile, but menopause occurs unusually early men are infertile.
Although most affected individuals have normal intellectual ability, many exhibit a poorly defined (and little studied) learning disability.
#BLOOM SYNDROME SKIN#
The most prominent and only constant physical. Blooms syndrome (BS) is a rare, autosomal recessive disorder characterized by growth deficiency, a sun-sensitive facial erythema, hypo-and hyperpigmented skin lesions, immunodeficiency. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Bloom syndrome is a rare medical condition, first described in New York City in 1954 by dermatologist David Bloom. Bloom syndrome - Getting a Diagnosis - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. Genetic and physical interactions have been described for Dmel\ Blm see below and in the Blm gene report.īloom's syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. ABSTRACT Blooms syndrome (BS) is a genetic disorder characterized cellularly by increases in sister chromatid exchanges (SCEs) and numbers of micronuclei. Homozygotes are hypersensitive to chemical mutagens and radiation in sperm, chromosome nondisjunction and chromosome loss are increased more than tenfold. There is one high-scoring fly ortholog, Blm, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.Ī UAS construct of the wild-type human Hsap\BLM gene has been introduced into flies heterologous rescue (functional complementation) has been demonstrated for the IR sensitivity phenotype.įemales homozygous for a null allele of Dmel\ Blm are sterile due to maternal-effect embryonic lethality males exhibit reduced fertility. The human gene implicated in this disease is BLM, which encodes Bloom Syndrome, RecQ Helicase-Like (also called RECQ元). This report describes Bloom syndrome this disease exhibits autosomal recessive inheritance. Vienna Drosophila Resource Center (VDRC).Korea Drosophila Resource Center (KDRC).Bloomington Drosophila Stock Center (BDSC).
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