Genetic disorderA genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance).
Genetic testingGenetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup.
Genetic counselingGenetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine.
Preimplantation genetic diagnosisPreimplantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration.
Angelman syndromeAngelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age.
MicrocephalyMicrocephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism.
Mother] A mother is the female parent of a child. A woman may be considered a mother by virtue of having given birth, by raising a child who may or may not be her biological offspring, or by supplying her ovum for fertilisation in the case of gestational surrogacy. A biological mother is the female genetic contributor to the creation of the infant, through sexual intercourse or egg donation. A biological mother may have legal obligations to a child not raised by her, such as an obligation of monetary support.
FatherA father is the male parent of a child. Besides the paternal bonds of a father to his children, the father may have a parental, legal, and social relationship with the child that carries with it certain rights and obligations. A biological father is the male genetic contributor to the creation of the infant, through sexual intercourse or sperm donation. A biological father may have legal obligations to a child not raised by him, such as an obligation of monetary support.
ChildA child (: children) is a human being between the stages of birth and puberty, or between the developmental period of infancy and puberty. It may also refer to an unborn human being. The legal definition of child generally refers to a minor, otherwise known as a person younger than the age of majority. Children generally have fewer rights and responsibilities than adults. They are classed as unable to make serious decisions.
Child supportChild support (or child maintenance) is an ongoing, periodic payment made by a parent for the financial benefit of a child (or parent, caregiver, guardian) following the end of a marriage or other similar relationship. Child maintenance is paid directly or indirectly by an obligor to an obligee for the care and support of children of a relationship that has been terminated, or in some cases never existed. Often the obligor is a non-custodial parent. The obligee is typically a custodial parent, a caregiver, or a guardian.
Child abuseChild abuse (also called child endangerment or child maltreatment) is physical, sexual, and/or psychological maltreatment or neglect of a child or children, especially by a parent or a caregiver. Child abuse may include any act or failure to act by a parent or a caregiver that results in actual or potential harm to a child and can occur in a child's home, or in the organizations, schools, or communities the child interacts with.
Frameshift mutationA frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein.
Child protectionChild protection is the safeguarding of children from violence, exploitation, abuse, and neglect. It involves identifying signs of potential harm, responding to allegations or suspicions of abuse, providing support and services to protect children, and holding those who have harmed them accountable. The primary goal of child protection is to ensure that all children are safe and free from harm. This includes physical, emotional, psychological, and sexual abuse; neglect; exploitation; and violence.
Child careChild care, otherwise known as day care, is the care and supervision of a child or multiple children at a time, whose ages range from two weeks of age to 18 years. Although most parents spend a significant amount of time caring for their child(ren), child care typically refers to the care provided by caregivers that are not the child's parents. Child care is a broad topic that covers a wide spectrum of professionals, institutions, contexts, activities, and social and cultural conventions.
Child prostitutionChild prostitution is prostitution involving a child, and it is a form of commercial sexual exploitation of children. The term normally refers to prostitution of a minor, or person under the legal age of consent. In most jurisdictions, child prostitution is illegal as part of general prohibition on prostitution. Child prostitution usually manifests in the form of sex trafficking, in which a child is kidnapped or tricked into becoming involved in the sex trade, or survival sex, in which the child engages in sexual activities to procure basic essentials such as food and shelter.
Child labourChild labour refers to the exploitation of children through any form of work that deprives them of their childhood, interferes with their ability to attend regular school, or is mentally, physically, socially and morally harmful. Such exploitation is prohibited by legislation worldwide, although these laws do not consider all work by children as child labour; exceptions include work by child artists, family duties, supervised training, and some forms of work undertaken by Amish children, as well as by indigenous children in the Americas.
Single-nucleotide polymorphismIn genetics and bioinformatics, a single-nucleotide polymorphism (SNP snɪp; plural SNPs snɪps) is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of considered population (generally regarded as 1% or more). For example, a G nucleotide present at a specific location in a reference genome may be replaced by an A in a minority of individuals. The two possible nucleotide variations of this SNP – G or A – are called alleles.
