21 relations: Cell-mediated immunity, Chromosomal deletion syndrome, Chromosomal translocation, Chromosome 4, Coloboma, Common variable immunodeficiency, Deletion (genetics), Dysplasia, Fluorescence in situ hybridization, Genetic counseling, Genetic testing, Glabella, Hypertelorism, Hypospadias, Intellectual disability, Kurt Hirschhorn, Microcephaly, Microdeletion syndrome, Micrognathism, Philtrum, Wolff–Parkinson–White syndrome.
Cell-mediated immunity is an immune response that does not involve antibodies, but rather involves the activation of phagocytes, antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response to an antigen.
Chromosomal deletion syndromes result from deletion of parts of chromosomes.
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
Chromosome 4 is one of the 23 pairs of chromosomes in humans.
A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.
Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM and IgA.
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.
Dysplasia (from Ancient Greek δυσ- dys-, "bad" or "difficult" and πλάσις plasis, "formation") is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia).
Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity.
Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.
Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.
The glabella, in humans, is the skin between the eyebrows and above the nose.
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism.
Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
Kurt Hirschhorn (* May 18, 1926 in Vienna) is an Austrian born American pediatrician, medical geneticist, and cytogeneticist who identified the chromosomal defects that underlie Wolf-Hirschhorn syndrome.
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
Microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).
Micrognathism, also called micrognathia, strawberry chin, hypognathia or hypogthathism, is a condition where the jaw is undersized.
The philtrum (philtrum, φίλτρον philtron, lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to many mammals, extending in humans from the nasal septum to the tubercle of the upper lip.
Wolff–Parkinson–White syndrome (WPWS) is a disorder due to a specific type of problem with the electrical system of the heart which has resulted in symptoms.