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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 (sound sample [1] ). [ 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 ...
A chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [33] It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. An example of these disorders is Trisomy 21 (the most common form of Down syndrome), in which there is an extra copy of chromosome 21 in all cells. [34]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Prader–Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to contribute to the region.
Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22 .