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If Down syndrome occurs in one in 500 pregnancies with a 90% detection rate and the test used has a 5% false-positive rate, this means, of 20 women who test positive on screening, only one will not have a fetus with Down syndrome confirmed. [114]
v. t. e. Wilson's ( temperature) syndrome, also called Wilson's thyroid syndrome or WTS, is a term used in alternative medicine to improperly attribute various common and non-specific symptoms to abnormally low body temperature and impaired conversion of thyroxine (T4) to triiodothyronine (T3), despite normal thyroid function tests. [ 1] E.
Genetics and genomics. The Duffy antigen/chemokine receptor gene (gp-Fy; CD234) is located on the long arm of chromosome 1 (1.q22-1.q23) and was cloned in 1993. [ 6] The gene was first localised to chromosome 1 in 1968, and was the first blood system antigen to be localised.
An anaphase lag of a chromosome 21 in a Down syndrome embryo leads to a fraction of euploid cells (2n cells), phenomenon described as "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by-tissue. This is the cause of 1–2% of the observed Down syndromes. [4]
CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue disorder. The acronym "CREST" refers to the five main features: calcinosis , Raynaud's phenomenon , esophageal dysmotility , sclerodactyly , and telangiectasia .
Oncology, dermatology. Sézary disease, or Sézary syndrome, [ 1] is a type of cutaneous T-cell lymphoma that was first described by Albert Sézary. [ 2] The affected T cells, known as Sézary's cells or Lutzner cells, have pathological quantities of mucopolysaccharides. Sézary disease is sometimes considered a late stage of mycosis fungoides ...
All patients with known or suspected McCune–Albright syndrome should undergo a screening evaluation for fibrous dysplasia. [18] Nuclear medicine tests such as technetium-99 scintigraphy are the most sensitive way to detect fibrous dysplasia lesions. [19] CT scan of the skull is the most useful test to evaluate craniofacial fibrous dysplasia ...
She and Doyle had genetic testing done, and were told that the fetus had tested positive for trisomy 21, a type of Down syndrome, a condition in which individuals have an extra copy of a chromosome.