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Duchenne muscular dystrophy. P – Point mutation, or any insertion/deletion entirely inside one gene. D – Deletion of a gene or genes. Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length.
Chromosome abnormality. 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 ...
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [ 2 ] The most common type is known as sickle cell anemia. [ 2 ] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [ 2 ] This leads to a rigid, sickle -like shape under ...
The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by template DNA strand slippage, within the DNA polymerase active site. [3] [4] [5] Deletions can be caused by errors in chromosomal crossover during meiosis, which causes several serious genetic diseases.
X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few disorders have this inheritance pattern, with a prime example being X-linked hypophosphatemic rickets. Males and females are both affected in these disorders, with males typically being more severely affected than females.
An example of a disease that is caused by a dominant lethal mutation is Huntington's disease. Null mutations, also known as Amorphic mutations, are a form of loss-of-function mutations that completely prohibit the gene's function. The mutation leads to a complete loss of operation at the phenotypic level, also causing no gene product to be formed.
Chromosomal Mutation. 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 ] It was first described by Jérôme Lejeune in 1963. [ 3 ]
Fluorescence in situ hybridization. 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes ...