Using birth defects epidemiology to take CHARGE. Coloboma, Heart defect, choanal Atresia, Retardation, Genital, Ear...

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...

The establishment of the oral microbiome begins before birth, challenging the long-held belief that the fetal oral cavity is sterile. The presence of oral microbes such as Streptococcus and Fusobacterium in amniotic fluid suggests that microbial exposure may occur in utero, potentially through translocation from the maternal oral or gastrointestinal tract. This early colonization primes the neonatal immune system and sets the stage for subsequent microbial succession. Maternal health,...

An organism is diploid if it inherits two variants, or alleles, of each gene, one from each parent. These two alleles constitute the genotype for a given gene. The term genotype is also used to refer to an organism’s complete set of genes. A diploid organism with two identical alleles has a homozygous genotype, whereas two different alleles indicate a heterozygous genotype. Observable traits arising from genotypes are called phenotypes, which can also be influenced by environmental factors. An...

A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...