Couples carrying chromosomal abnormalities or mendelian disorders
would be advised to choose IVF with PGD (1, 2), especially those with an affected child.
Finding disease variants in Mendelian disorders
by using sequence data: methods and applications.
Clinical exome sequencing for genetic identification of rare Mendelian disorders
Among Mendelian disorders
, four types are recognizable: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.
Screening for carriers of Mendelian disorders
has traditionally focused on a limited number of diseases, as determined by the parents' ethnicity and race.
compile 56 chapters for all health professionals involved in the care of women with high-risk pregnancies that address such issues as nutrition, alcohol and substance abuse, and environmental agents and reproductive risk; genetic screening for Mendelian disorders
and fetal aneuploidy and neural tube defects; monitoring fetal lung maturity, antepartum fetal monitoring, and interpreting intrapartum fetal heart tracings; and maternal diseases such as sickle cell anemia, cardiac disease, diabetes, asthma, epilepsy, hypertension, lupus, infections, hepatitis, and HIV.
Finally, with the exception of molecular diagnostics for mendelian disorders
, the progress on the translation of genome data to the clinic has been relatively slow, although we can expect this trend to change with an increasing number of applications in the near future.
Chromosomal microarrays currently in development are more accurate than karyotypes, and should soon be able to detect many common Mendelian disorders
She describes changes and repair at the molecular DNA level, Mendelian inheritance, molecular explanations for unexpected phenotypes in Mendelian disorders
, cancer genetics, developmental genetics, the role of genetics in complex diseases, gene therapy, and the new field of individualized medicine instigated by genetics.
Some of the early success stories with our technology include the first demonstration that WGS in a nuclear family could determine the genetic underpinnings of mendelian disorders
(2) and furthering the understanding of what causes cancer (3, 4).
Although the concept of grouping Mendelian disorders
associated with an up-regulation of type I interferon (IFN) has not been previously recognised in the medical literature, my past and current work argues that this concept has scientific validity and clinical utility.
Many Mendelian disorders
such as cystic fibrosis are caused by mutations in a single gene, whereas other inherited disorders, such as X-Linked Intellectual Disability (XLID), can have a significant number of underlying causative genes.