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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.
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 ...
These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring in one to two per 1,000 live births. [11] It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital. [4] [5] [12] [13]
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]
[10] [12] While most people have 46 chromosomes, people with Turner syndrome usually have 45 in some or all cells. [6] In cases of mosaicism, the symptoms are usually fewer, and possibly none occur at all. [13] Diagnosis is based on physical signs and genetic testing. [3] No cure for Turner syndrome is known. [14] Treatment may help with ...
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies. [1] The following chromosome instability syndromes are known: Ataxia telangiectasia; Ataxia telangiectasia-like disorder; Bloom syndrome
An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. [3] [4] About 68% of human solid tumors are aneuploid. [4] Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction).
The symptoms may vary, depending on the exact location of the chromosomal deletion. [1] The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost band on the short arm (p) of chromosome 1. It is one of the most common deletion syndromes. The syndrome is thought to affect one in every 5,000 to 10,000 births. [2]