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Chromosomal Deletion Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5 . [ 1 ] Its name is a French term ("cat-cry" or " call of the cat ") referring to the characteristic cat-like cry of affected children. [ 2 ]
Cat genetics describes the study of inheritance as it occurs in domestic cats. In feline husbandry it can predict established traits ( phenotypes ) of the offspring of particular crosses. In medical genetics , cat models are occasionally used to discover the function of homologous human disease genes.
The disorder leaves the cat with a full-size body, but disproportionately short and thick legs. Dwarf cats often suffer from spinal disorders, such as lordosis (excessive curvature of the spine) and pectus excavatum (hollowed chest). [7] As with human dwarfism, there are still a lot of unknown mysteries in the science behind feline dwarfism.
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [ 1 ] [ 2 ] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or ...
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.The extra genetic material disrupts normal development, causing multiple and complex organ defects.
There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. [1] Most patients with this karyotype are known to have abnormal gonadal histology and heights considerably below their genetic potential.
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common autosomal trisomy leading to miscarriage, and the second most common chromosomal cause (closely following X-chromosome monosomy). [2] About 6% of miscarriages have trisomy 16. [3]
Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21. Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]