Disease that manifests before birth, either caused by a disorder during embryonic development or resulting from an inherited defect.
Refers to alterations in the number of chromosomes or even chromosomal translocations.
Study of inheritance by applying cytological and genetic techniques.
Pyrimidine base found in DNA and RNA. It is linked to guanine by three hydrogen bridge bonds in double-stranded sequences.
Depth in DNA sequencing; the number of unique reads that include a given nucleotide in the reconstructed sequence. Deep sequencing generally refers to aiming for a high number of unique reads for each region of a sequence.
Trinucleotide sequence of DNA or mRNA that represents a specific amino acid in the genetic code and is translated into its corresponding amino acid in the translation process. Some codons do not represent amino acids and function as translation termination signals.
Surgical procedure to obtain a sample of abnormal cervical tissue for further analysis in order to diagnose or treat precancerous changes in the cervix.
Type of mutation associated with large chromosomal changes.
CHORIONIC VILLUS SAMPLING
Invasive prenatal diagnostic procedure that involves the removal of a small amount of tissue from the chorionic villi from the chorionic sac, in order to determine if the baby has a genetic condition or a chromosomal abnormality.
CONGENITAL HEART DISEASES
Structural and/or functional heart defects present from birth.
Combined First Trimester Screening (Triple Screening); technique used to detect chromosome abnormalities, involving an ultrasound scan and blood tests between the ten and twelfth weeks of pregnancy.
Copy number variation; genomic DNA alteration that results in the loss or gain of genetic material, compared to a "normal" or "healthy" individual.
Structure found in the nucleus of cells, formed of DNA and proteins. This is where the genes containing all the genetic information of the cell and its hereditary characteristics are located.
Extent to which proposals about the investigated hypotheses or theories are justified by the results of the study.
Type of genetic alteration that affects part or all of a chromosome and can alter the expression of hundreds or thousands of genes simultaneously. Down's syndrome is an example.
Individual that has inherited a mutated genetic trait of a disease, but does not show any symptoms. For example, haemophilia: a recessive X-linked genetic disorder that does not show any symptoms in the carrier.
DNA sequence with two or more variants in the population.
Application of genetic knowledge in the clinical world. Its objectives include genotype-phenotype association (search for genetic associations), studying disorder heritability and genetic counselling.
Information on more than 6,400 genes, all of which are included in the OMIM. Therefore, if any changes are found, we know that we will be able to retrieve the gene description.
Substance used to create chromosomes, made up of DNA, RNA and various protein molecules, located in the nucleus of each human cell.