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proband

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proband
proband (ˈprəʊbənd) [ad. L. proband-us, gerundive of probāre to test, examine.] An individual chosen as a propositus because of the presence of some trait whose inheritance is to be studied. Also attrib., as proband method, proband test.1929 Resumptio Genetica IV. 296/1 (Index), Proband. 1931 E. & C... Oxford English Dictionary
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Proband
In medical genetics and other medical fields, a proband, proposito (male proband), or proposita (female proband) is a particular subject (human or other The diagnosis of a proband raises the index of suspicion for the proband's relatives and some of them may be diagnosed with the same disease. wikipedia.org
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propositus
propositus (prəʊˈpɒzɪtʌs) Pl. propositi. [a. L. prōpositus, pa. pple. of prōpōnere (see propone v.).] An individual who was the first member of a family to come to the notice of a researcher, and through whom investigation of a pedigree began. Cf. proband, proposita.1926 Eugenics Rev. XVIII. 248 ☛ P... Oxford English Dictionary
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DeFries–Fulker regression
The formula used for DF regression is: where C = expected co-twin score, P = proband score, R = coefficient of relationship (0.5 for DZ twins, 1.0 for wikipedia.org
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UBTF
In 2022, another likely pathogenic variant (Gln203Arg) was identified in a proband with severe early-onset developmental delay.. wikipedia.org
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Displaying pedigree of both husband and wife on same chart? Is there a pedigree chart available with which I can make both my family tree and my wife's family tree on the same chart? Both the trees have a common anc...
A combined pedigree is easy if you put one of your children in the first generation (proband) position of any pre-printed pedigree chart (since you aren't
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Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Risk to the family members of a proband with a CASK disorder depends on the phenotype (i.e., MICPCH or XLID ± nystagmus) in the proband. wikipedia.org
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proband中文，proband的意思，proband翻譯及用法 - 英漢詞典
結論板層狀魚鱗病患者轉谷氨酰胺酶1的活性完全缺失，是其轉谷氨酰胺酶1基因的無義突變，引起編碼的蛋白缺陷。 proband also had special clinical feature including follicular hyperkeratosis on the elbows and knees, and onychodystrophy of 20 nails as well.
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Proband - Translation from German into Chinese | PONS
Look up the German to Chinese translation of Proband in the PONS online dictionary. Includes free vocabulary trainer, verb tables and pronunciation function.
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Hand-foot-genital syndrome
If a parent of the proband is affected, the risk to the siblings is 50%. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. wikipedia.org
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Bilateral frontoparietal polymicrogyria
Offspring of a proband Offspring of a proband are obligate heterozygotes and will therefore carry one mutant allele. Other family members of a proband. wikipedia.org
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先证者
在医学遗传学和其他医学领域，先证者(Proband)是正在研究或报告的特定受试者（人类或其他动物）,通常认为是指开展疾病家系调查时，第一个被确诊的患者。 在遗传图谱中，先证者常用相应阴影的正方形（男性）或圆形（女性）来标记。 wikipedia.org
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X-linked complicated corpus callosum dysgenesis
The proband was a 2 year old male, the first-born child of healthy, non-consanguineous Ashkenazi Jewish parents in their mid-20s, his pregnancy was uneventful Chromosomal analysis done on the proband child, his mother and his uncle was normal. wikipedia.org
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Genetic Hearing Loss Overview - GeneReviews® - NCBI Bookshelf
Sibs of a male proband. The likelihood of hearing loss in sibs depends on the genetic status of the mother: If the mother of the proband has the hearing loss-related pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will have hearing loss;
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Sonoda syndrome
The proband was a 6-year-old toddler girl, she was born weighing 2664 grams. He had the same skin tone, hair color, and facial characteristics as his proband sister. wikipedia.org
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