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Chromosomal Aberrations

Chromosomal aberrations are disruptions of the normal chromosomal content that can cause genetic disorders like Down syndrome. Some chromosomal changes do not directly cause disease but may increase risk of disorders in offspring. Abnormal chromosome numbers, called aneuploidy, can be lethal or lead to genetic disorders. Examples of disorders caused by chromosomal changes include Cri du chat syndrome from deletion of chromosome 5; Wolf-Hirschhorn syndrome from deletion of chromosome 4; Down syndrome from an extra copy of chromosome 21; and Turner syndrome in females from only one X chromosome instead of the normal XX.

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182 views1 page

Chromosomal Aberrations

Chromosomal aberrations are disruptions of the normal chromosomal content that can cause genetic disorders like Down syndrome. Some chromosomal changes do not directly cause disease but may increase risk of disorders in offspring. Abnormal chromosome numbers, called aneuploidy, can be lethal or lead to genetic disorders. Examples of disorders caused by chromosomal changes include Cri du chat syndrome from deletion of chromosome 5; Wolf-Hirschhorn syndrome from deletion of chromosome 4; Down syndrome from an extra copy of chromosome 21; and Turner syndrome in females from only one X chromosome instead of the normal XX.

Uploaded by

Daryl Stark
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Chromosomal aberrations are disruptions in the normal chromosomal content of a cell, and are a major cause of genetic disease

in humans, such as Down syndrome. Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although they may lead to a higher chance of having a child with a chromosome disorder. Abnormal numbers of chromosomes or chromosome sets, aneuploidy, may be lethal or give rise to genetic disorders. The gain or loss of chromosome material can lead to a variety of genetic disorders. Human examples include:

Cri du chat, which is caused by the deletion of part of the short arm of chromosome 5. "Cri du chat" means "cry of the cat" in French, and the condition was so-named because affected babies make high-pitched cries that sound like a cat. Affected individuals have wide-set eyes, a small head and jaw and are moderately to severely mentally retarded and very short. Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4. It is characterized by severe growth retardation and severe to profound mental retardation. Jacobsen syndrome, also called the terminal 11q deletion disorder.[1] This is a very rare disorder. Those affected have normal intelligence or mild mental retardation, with poor expressive language skills. Most have a bleeding disorder called Paris-Trousseau syndrome. Down's syndrome, usually is caused by an extra copy of chromosome 21 (trisomy 21). Characteristics include decreased muscle tone, asymmetrical skull, slanting eyes and mild to moderate mental retardation. Edward's syndrome, which is the second most common trisomy after Down syndrome. It is a trisomy of chromosome 18. Symptoms include mental and motor retardation and numerous congenital anomalies causing serious health problems. Ninety percent die in infancy; however, those who live past their first birthday usually are quite healthy thereafter. They have a characteristic hand appearance with clenched hands and overlapping fingers. Patau Syndrome, also called D-Syndrome or trisomy-13. Symptoms are somewhat similar to those of trisomy-18, but they do not have the characteristic hand shape. Klinefelter's syndrome (XXY). Men with Klinefelter syndrome are usually sterile, and tend to have longer arms and legs and to be taller than their peers. Boys with the syndrome are often shy and quiet, and have a higher incidence of speech delay and dyslexia. During puberty, without testosterone treatment, some of them may develop gynecomastia. Turner syndrome (X instead of XX or XY). In Turner syndrome, female sexual characteristics are present but underdeveloped. People with Turner syndrome often have a short stature, low hairline, abnormal eye features and bone development and a "caved-in" appearance to the chest. XYY syndrome. XYY boys are usually taller than their siblings. Like XXY boys and XXX girls, they are somewhat more likely to have learning difficulties. Triple-X syndrome (XXX). XXX girls tend to be tall and thin and are often shy. They have a higher incidence of dyslexia.

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