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Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8.

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Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals.

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APPENDIX FCHROMOSOMAL ABNORMALITIES

Chromosomal Abnormalities

Almost every cell in our body contains 23 pairs of chromosomes, for a total of 46 chromosomes. Half of the chromosomes come from our mother, and the other half come from our father. The first 22 pairs are called autosomes. The 23rd pair consists of the sex chromosomes, X and Y. Females usually have two X chromosomes, and males usually have one X and one Y chromosome in each cell. All of the information that the body needs to grow and develop comes from the chromosomes. Each chromosome contains thousands of genes, which make proteins that direct the body’s development, growth, and chemical reactions.

Many types of chromosomal abnormalities exist, but they can be categorized as either numerical or structural. Numerical abnormalities are whole chromosomes either missing from or extra to the normal pair. Structural abnormalities are when part of an individual chromosome is missing, extra, switched to another chromosome, or turned upside down.

Chromosomal abnormalities can occur as an accident when the egg or the sperm is formed or during the early developmental stages of the fetus. The age of the mother and certain environmental factors may play a role in the occurrence of genetic errors. Prenatal screening and testing can be performed to examine the chromosomes of the fetus and detect some, but not all, types of chromosomal abnormalities.

Chromosomal abnormalities can have many different effects, depending on the specific abnormality. For example, an extra copy of chromosome 21 causes Down syndrome (trisomy 21). Chromosomal abnormalities can also cause miscarriage, disease, or problems in growth or development.

The most common type of chromosomal abnormality is known as aneuploidy, an abnormal chromosome number due to an extra or missing chromosome.Most people with aneuploidy have trisomy (three copies of a chromosome) instead of monosomy (single copy of a chromosome). Down syndrome is probably the most well-known example of a chromosomal aneuploidy. Besides trisomy 21, the major chromosomal aneuploidies seen in live-born babies are: trisomy 18; trisomy 13; 45, X (Turner syndrome); 47, XXY (Klinefelter syndrome); 47, XYY; and 47, XXX.

Structural chromosomal abnormalities result from breakage and incorrect rejoining of chromosomal segments. A range of structural chromosomal abnormalities result in disease. Structural rearrangements are defined as balanced if the complete chromosomal set is still present, though rearranged, and unbalanced if information is additional or missing. Unbalanced rearrangements include deletions, duplications, or insertions of a chromosomal segment. Ring chromosomes can result when a chromosome undergoes two breaks and the broken ends fuse into a circular chromosome. An isochromosome can form when an arm of the chromosome is missing and the remaining arm duplicates.

Balanced rearrangements include inverted or translocated chromosomal regions. Since the full complement of DNA material is still present, balanced chromosomal rearrangements may go undetected because they may not result in disease. A disease can arise as a result of a balanced rearrangement if the breaks in the chromosomes occur in a gene, resulting in an absent or nonfunctional protein, or if the fusion of chromosomal segments results in a hybrid of two genes, producing a new protein product whose function is damaging to the cell.

Copyright © 2008, Genetic Alliance.

All Genetic Alliance content, except where otherwise noted, is licensed under a Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Bookshelf ID: NBK115545

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