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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.
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]
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 ...
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes ...
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]
They come in all shapes and sizes. Some walk, some slither, some fly and some swim. Humans are blessed to share the planet with just over 2.1 million recognized species of animals. And scientists ...
For instance, the mutation for sickle-cell anemia is more often found in people with ancestry from certain sub-Saharan African, south European, Arabian, and Indian populations, due to the evolutionary pressure from mosquitos carrying malaria in these regions. New findings show that each human has on average 60 new mutations compared to their ...