angelman syndrome

Angelman Syndrome: Signs, Therapy

Brief overview What is Angelman syndrome? Rare genetic disorder characterized by mental and physical impairments in child development. Symptoms: doll-like facial features, developmental disorder, impaired coordination, little or no language development, decreased intelligence, seizures, laughing for no reason, fits of laughter, excessive drooling, waving arms joyfully Causes: Genetic defect on chromosome 15. Diagnosis: including interview, … Angelman Syndrome: Signs, Therapy

Oculocutaneous Albinism Type 2: Causes, Symptoms & Treatment

Oculocutaneous albinism type 2 is the most common variant of albinism worldwide, affecting the skin, hair, and eyes. The phenotypic appearance of the disease covers a wide range, from barely visible to complete albinism. Equally variable are the visual impairments associated with this type of albinism. What is oculocutaneous albinism type 2? The main phenotypic … Oculocutaneous Albinism Type 2: Causes, Symptoms & Treatment

Hypopigmentation: Causes, Treatment & Help

Hypopigmentation is a specific symptom of human skin or hair. Hypopigmentation is usually characterized by the fact that the number of melanocytes is greatly reduced. The symptom can also occur when the formation of the skin pigment melanin is decreased. Basically, hypopigmentation can be both congenital and acquired. What is hypopigmentation? Symptoms of hypopigmentation can … Hypopigmentation: Causes, Treatment & Help

Angelman Syndrome: Causes, Symptoms & Treatment

Angelman syndrome (AS) is characterized by a delay in physical and mental development. People with Angelman syndrome require lifelong constant care because they cannot care for themselves or properly assess danger. The rare genetic disorder got its name from British pediatrician Harry Angelman, who was the first to describe the condition from a scientific perspective … Angelman Syndrome: Causes, Symptoms & Treatment

Hyperactivity: Causes, Treatment & Help

Hyperactivity can have various causes. These are usually included in the choice of appropriate treatment. What is hyperactivity? Often, hyperactivity in children is accompanied by concentration problems; this is the case, for example, in the presence of the so-called attention deficit hyperactivity disorder (ADHD). The term hyperactivity is derived from the Greek or Latin words … Hyperactivity: Causes, Treatment & Help

Chromosomes

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? | 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? | 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? | 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? | 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

Pitt-Hopkins Syndrome: Causes, Symptoms & Treatment

Pitt-Hopkins syndrome is the name given to an extremely rare genetic disorder that has no cure. The genetic defect results in motor and intellectual disabilities, among other symptoms. What is Pitt-Hopkins syndrome? Pitt-Hopkins syndrome (PHS) is a genetic disorder associated with mental retardation, inadequate or complete absence of spoken language, epilepsy, and respiratory regulation disorders. … Pitt-Hopkins Syndrome: Causes, Symptoms & Treatment

Angelman Syndrome

What is Angelman syndrome? Angelman syndrome is a genetic disorder that causes mental and physical disability. Characteristic for the disease are above all the speech development disorder and excessive cheerfulness of the affected persons. Angelman syndrome occurs in boys and girls and affects about 1-9 per 100,000 births worldwide. It has similarities to Prader-Willi syndrome. … Angelman Syndrome