Significados de affect siblings em inglês

We have characterized a family comprising two affected siblings born to healthy parents.

Three affected siblings had the characteristic features of Setleis syndrome.

Three affected siblings had characteristic white matter abnormalities and presented with progressive neurological decline.

Sanger sequencing confirmed the presence of the homozygous mutation in the other three affected siblings.

It was observed that the segregation of NRAMP1 haplotypes into affected siblings was significantly nonrandom.

The presence of psychotic symptoms in AD confers increased risk of similar symptoms to affected siblings.

Purpose: We revisited 42 families with two or more cleft- affected siblings who participated in previous studies.

Gender was randomly distributed among bipolar sibships, demonstrating the absence of gender resemblance among affected siblings.

In order to test this hypothesis, we studied 102 sibships with two or more affected siblings.

We observed gonosomal mosaicism for a variant in PAX3 in an asymptomatic father of two affected siblings.

To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings.

To assess the significance of secondary cases we compare the incidence of affected siblings between probands and their spouses.

No intrafamilial correlation was found for the gender of affected siblings, suggesting that familial vulnerability factors are not gender-specific.

The null hypothesis of a random distribution of affected siblings was rejected (P=0.005).

Conclusions: We have identified mutations in PLA2G4A as a cause of CMUSE in two affected siblings.

Sanger sequencing confirmed the presence of this variant in a homozygous state in the two affected siblings, while both parents were heterozygous.