Genetic counseling is a process of communication between patients and trained professionals intended to provide patients who have a genetic disease, or risk of such a disease, with information about their condition and its effect on their family. This allows patients and their families to make infor...
detectable single gene mutations (e.g., molecular diagnosis of hereditary disease such as cystic fibrosis when parents are known mutation carriers or fragile X syndrome when the mother is a known carrier) in persons with genetic disorders for whom the PGT-M (PGD) procedure will...
To determine whether sequence variants with a strong deficit of homozygosity resulted from losses early or late in pregnancy, we examined the reproductive history of heterozygous carrier couples, looking for an excess of miscarriages or early death among their offspring. Also, we assessed the effects...
Carrier frequencies range from 1/20 among persons in Utah to 1/50–1/100 among Caucasians in the United States (Nowaczyk et al. 2006). Based on a carrier average of 1/30, a disease prevalence of 1/3600 would be expected. However, the documented proband prevalence is 10–15 times less...
. A disease prevalence curve’s shape reflects the multiplicity of age-specific landmark events in a patient’s life, ranging from health-neutral medical checkups (which can nevertheless reveal underlying conditions), to age-specific hormonal changes (e.g., puberty, pregnancy, or menopause), and...
Carrier screening of female reproductive partner planning a pregnancy and has family history of AIS consistent with X-linked inheritance (i.,e., affected 46,XY individuals, manifesting heterozygous females (46,XX)); or Prenatal testing in the offspring of the biological parent with confirmed AR mu...
319 total individuals from the DiscovEHR discovery and replication cohorts. Using a Bonferroni significance threshold of 2.90 × 10−5for associations with 1465 disease diagnoses and 261 clinical measurements from EHRs (Supplementary Data2and3), we identified statistically significant associations ...
In Xenopus embryos, mouse embryos and various types of cell cultures, folate deficiency, inhibition of methylation, or loss of the reduced folate carrier Slc19a1 each causes reduced cilia formation, indicating that the folate and methylation pathways are required for cilium formation. The lack of ...