By The cat~commonswiki, License: CC BY-SA 3.0. In addition to the chromosomal aneuploidies mentioned above, in which none of the autosomal monosomies and few autosomal trisomies are compatible with life, polyploidies of the chromosomes affect entire sets of chromosomes (see above). In numerical aberrations, increase or decrease in number of chromosomes are seen. Trisomy 21, also referred to as Down’s syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21. If you have problems viewing PDF files, download the latest version of Adobe Reader. Chromosomal aberrations are the most common cause of spontaneous abortions (accounting for 60% of cases). They can refer to changes in the number of sets of chromosomes (ploidy), changes in the number of individual chromosomes (somy), or changes in appearance of individual chromosomes through mutation-induced rearrangements. Common types of numerical aberrations are: triploidy, trisomy, monosomy and mosaicism. Our medical articles are the result of Duplication is the opposite of deletion and is characterized by a multiplication of individual chromosome sections. In the case of a dominant genetic disease, one copy of the gene is altered by mutation and causes the disease even though the other gene copy is normal. Jacobsen syndrome, also known as 11q deletion disorder, results from a loss of genetic material from the end of the long arm of chromosome 11. It is characterized by the presence of an extra X chromosome, which results in the karyotype 47,XXY. Angelman syndrome (AS) is an example of genomic imprinting, where the deletion or inactivitation of genes on the maternally inherited chromosome 15 causes the paternal copy, which may be of normal sequence, to be imprinted and silenced. Gametes with these anomalies can result in conditions such as Down syndrome (who have 47 chromosomes instead of 46), or Turner syndrome (45 chromosomes). The complete loss of the chromosome segment affected by the deletion results in lethal outcomes generally. Treatment thus entails lifelong testosterone replacement. Three well-known autosomal chromosome disorders associated with trisomies of entire autosomes are sometimes found in live births. Chromosomal abnormalities, alterations and aberrations are at the root of many inherited diseases and traits. [Human diseases caused by chromosomal aberrations]. Sex linked diseases: When diseases can be attributed to genes on a sex chromosome, either the X or the Y, they are characterized as sex-linked diseases. Numerical disorders occur when there is a change in the number of chromosomes (more or fewer than 46). Chromosomal aberrations Since the development of chromosome techniques in human beings, chromosomes of patients in the hospitals are routinely analysed. The risk of developing leukemia, as well as Alzheimer’s disease, is greatly increased. For example Haemophilia (A and B) Polygenic diseases: Image: Overlapping fingers. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra or missing chromosome in each of the body’s cells. This includes one pair of chromosomes which are the sex chromosomes. Similar to the other 2 numerical chromosomal aberrations discussed above, trisomy 18 correlates with the mother’s age at the time of conception. Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. The most common form of translocation is reciprocal translocation, in which a section of a chromosome is exchanged for another section of a non-homologous chromosome. For individuals with cat eye syndrome, the short arm (known as 22p) and a small region of the long arm (22q) of chromosome 22 are present three or four times, rather than twice. Trisomy 21, also referred to as Down’s syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21. Chichester: Wiley. The symptoms of trisomy 21 usually include impaired intelligence and specific phenotypic characteristics such as the flat face, brachycephalus, epicanthus (outward and upward slanting eyelids), a small but usually open mouth with a protruding tongue, and small physical stature. Approx. Translocation of Chromosomal Aberration: Sometimes a part of a chromosome becomes detached and joins to a part of a non-homologous chromosome, thus producing translocation. Boys are worse affected by this because they only have one X-Chromosome but even in girls, Fragile X syndrome can cause learning difficulties. Trisomy 18, or Edwards syndrome, occurs when a person has a third copy of material from chromosome 18 instead of the usual two copies. A clinical condition known as cri-du-chat syndrome (French for ‘cat’s cry’) is characterized by a deletion in the short arm of chromosome 5 (5p). Image: Chromosomes mutations. Reciprocal/interchange translocation refers to a single break involving 2 homologous chromosomes and the exchange of their genetic content. Unbalanced translocation, however, refers to an altered set of chromosomes or an altered amount of genetic material. Structural aberrations also include some disorders which are characterized by chromosomal instability and breakage. Turner syndrome (TS) occurs when one of the two X chromosomes in females is either missing or incomplete. Numerical chromosomal aberrations are defined as changes in the number of chromosomes or the entire set of chromosomes. Lymphedema may also occur in the hands and feet congenitally. The final pair is called the "sex chromosomes." These children also exhibit a typical hand position of the fingers in which the middle and ring fingers are overlapped by the index and little fingers, respectively. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311 NCLEX®, NCLEX-RN®, and NCLEX-PN® are registered trademarks of the National Council of State Boards of Nursing, Inc (NCSBN®). However, these changes can be found in all bodily tissues essentially. The risk of abnormal division is increased by the age of the mother at the time of division. The Frequency and Types of Chromosomal Aberrations in the Patients with Hypogonadism. 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