Malformation syndrome refers to various congenital malformations. Several organ systems are affected, which are conspicuous by multiple dysfunctions. The diagnosis can often be made in the womb. What is malformation syndrome? Malformation syndrome is a very rare condition. Nevertheless, it has a broad appearance. The syndrome is a combination of multiple malformations. Several organs of … Malformation Syndrome: Causes, Symptoms & Treatment
Fetal alcohol syndrome is associated with multiple impairments in the child’s cognitive and somatic development and manifests as a result of alcohol consumption during pregnancy. With an incidence of approximately 1 in 500, fetal alcohol syndrome is one of the most common causes of intellectual disability (preceding Down syndrome). What is fetal alcohol syndrome? Fetal … Fetal Alcohol Syndrome: Causes, Symptoms & Treatment
Corpus callosum agenesis is a hereditary disorder and inhibitory malformation with partial or total malposition of the cerebral peduncle. Affected individuals often exhibit behavioral abnormalities and may suffer from symptoms such as visual and hearing loss. Agenesis is treated symptomatically because no causal therapy exists. What is corpus callosum agenesia? The corpus callosum is a … Corpus Callosum Agenesis: Causes, Symptoms & Treatment
By muscle hypotonia, the medical profession understands too little muscle tension with simultaneous weakness of the musculature, which is already noticeable in childhood. It always occurs as a symptom of an underlying disease and is treated with physiotherapeutic measures. What is muscle hypotonia? The term muscle hypotonia is composed of muscles and the Latin word … Muscle Hypotonia: Causes, Symptoms & Treatment
Preimplantation genetic diagnosis is the term used by physicians to describe molecular genetic testing. This involves research into hereditary diseases or abnormalities in the chromosomes of embryos created through artificial insemination. What is preimplantation genetic diagnosis? Preimplantation genetic diagnosis (PGD) is medical research performed on embryos conceived through artificial insemination. Preimplantation genetic diagnosis (PGD) is … Preimplantation Genetic Diagnosis: Treatment, Effects & Risks
Alcohol embryopathy (AE), which is sometimes also called fetal alcohol syndrome, is a medical term used to describe impairments in somatic and cognitive child development. Alcohol embryopathy is triggered by alcohol consumption or alcohol abuse during pregnancy. What is alcohol embryopathy? Alcohol embryopathy is a medical term used to describe impairments in somatic as well … Alcohol Embryopathy: Causes, Symptoms & Treatment
Definition – What are chromosomes? The genetic material of a cell is stored in the form of DNA (deoxyribonucleic acid) and its bases (adenine, thymine, guanine and cytosine). In all eukaryotic cells (animals, plants, fungi) this is present in the cell nucleus in the form of chromosomes. A chromosome consists of a single, coherent DNA … Chromosomes
What functions do the chromosomes have? The chromosome, as the organizational unit of our genetic material, serves primarily to ensure an even distribution of the duplicated genetic material to the daughter cells during cell division. For this purpose, it is worthwhile to take a closer look at the mechanisms of cell division or the cell … What functions do the chromosomes have? | Chromosomes
What is the normal set of chromosomes in humans? Human cells have 22 sex-independent chromosome pairs (autosomes) and two sex chromosomes (gonosomes), so a total of 46 chromosomes make up one set of chromosomes. Autosomes are usually present in pairs. The chromosomes of a pair are similar in shape and sequence of the genes and … What is the normal set of chromosomes in humans? | Chromosomes
What is a chromosomal aberration? The structural chromosomal aberration basically corresponds to the definition of chromosomal mutation (see above). If the amount of genetic material remains the same and is only distributed differently, this is called a balanced aberration. This is often done by translocation, i.e. the transfer of a chromosome segment to another chromosome. … What is a chromosomal aberration? | Chromosomes
What is a chromosome analysis? Chromosomal analysis is a cytogenetic method used to detect numerical or structural chromosomal aberrations. Such an analysis would be used, for example, in cases of immediate suspicion of a chromosomal syndrome, i.e. malformations (dysmorphies) or mental retardation (retardation), but also in infertility, regular miscarriages (abortions) and also certain types of … What is a chromosome analysis? | Chromosomes
Hypertelorism is an abnormally large distance between the eyes that does not necessarily have pathological value. When the phenomenon is present in the context of malformation syndromes, it has pathologic significance and is usually due to a genetic mutation. Treatment of hypertelorism is usually not indicated, but may improve the quality of life of the … Hypertelorism: Causes, Treatment & Help
