Introduction Nowadays the term “short stature” is used because of the negative connotation of the word “short stature”. This describes that a person is below the 3rd percentile of the growth rate – i.e. less than 97% of all persons in his age group. Children whose parents are also very small do not fall under … Childhood
Adolescence syndrome A “short stature or small stature syndrome” does not exist. There are various syndromes, i.e. combinations of symptoms or phenomena, which comprise a short stature. The best known syndromes are the Ulrich Turner syndrome (see description for further symptoms), trisomy 21, Prader Willi syndrome or Noonan syndrome. All these syndromes include dwarfism as … Adolescence syndrome | Childhood
Duration If a child has a deficiency of growth hormones that causes dwarfism, artificial growth hormones must be administered until the epiphyseal joints of the bones have closed. This means that the therapy is stopped when the longitudinal growth of the body is complete. This is often as early as the age of 16 in … Duration | Childhood
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
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
