proband

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proband

[′prō‚band]
(genetics)
The clinically affected individual through whom a family is found that can be used to study the genetics of a particular disorder. Also known as propositius.
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Because of the way ordeals sorted the accused, the clerics who administered them went in knowing that willing probands were innocent.
A total of 315 probands from 315 unrelated CMT families were recruited from the Department of Neurology of the Third Xiangya Hospital and Xiangya Hospital (including 140 CMT1 families, 158 CMT2 families, and 17 unclassified families).
Brazil F3 Brazil F4 Brazil F5 Proband Proband Proband Clinical findings Sex Female Female Male Age 11 years 14 years 16 years 1 5 months month Perinatal data Gestational age Term Term 35 weeks BW, g 2270 2750 2130 Length, cm 45 47 Typical facial features + + + Current height 131.
In proband sequencing, subsequent variant analysis and phenotype correlation focus on the individual, whereas with trio WES variants can importantly be analyzed for mode of inheritance, to determine variant phasing (ie, cis versus trans) with respect to parental genotype and whether a given variant is de novo.
Although all probands had co-morbid learning disability and were attending schools with stipulated support in place, the pattern of the proband behaviours could have been very different and it is conceivable that the impact thus brought upon family members would affect their adjustment.
For each proband, 30 metaphases were counted and 5 metaphases were analyzed and karyograms were prepared using the Cytovision computer-assisted karyotyping system version 4.
abortion, intrauterine death, live birth, neonatal death, stillbirth with any congenital malformation was termed as Proband.
DNA was extracted from venous blood specimens for both probands and their mothers using standard methods.
Noninvasive prenatal diagnosis of Duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.
Three ranked levels of depression categorized based on information from the probands themselves or on information from other informants about the probands Other informants Probands no depression minor depression no depression 66 (1.
Personalis' sequencing depth and coverage uniformity enhances sensitivity for mosaic variants, enabling mosaic detection in probands, as well as germ-line mosaicism detection in the parents for more precise recurrence risk prediction.