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A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.
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.
Chromosome anomalies can be inherited from a parent or be "de novo". This is why chromosome studies are often performed on parents when a child is found to have an anomaly. If the parents do not possess the abnormality it was not initially inherited; however, it may be transmitted to subsequent generations. [citation needed]
Genetic disorders may be grouped into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes ...
Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes). In humans this may refer to:
One of them consists in micro-deletions of the chromosome region 15q11–q13. 70% of patients present a 5–7-Mb de novo deletion in the proximal region of the paternal chromosome 15. The second frequent genetic abnormality (~ 25–30% of cases) is maternal uniparental disomy of chromosome 15.
Trisomy 18 causes several life-threatening medical problems, often including heart defects and organ abnormalities, and many babies with the condition die before they're born or within the first ...
Epilepsy or electroencephalogram abnormalities may be more common in those with trisomy X, particularly those who are also intellectually disabled. [3] [20] Epilepsy in sex chromosome aneuploidies as a whole is mild, amenable to treatment, and often attenuates or disappears with time.