Inherited disorders can arise when chromosomes behave abnormally during meiosis. Chromosome disorders can be divided into two categories: abnormalities in chromosome number and chromosomal structural rearrangements. Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal.
The isolation and microscopic observation of chromosomes forms the basis of cytogenetics and is the primary method by which clinicians detect chromosomal abnormalities in humans. A karyotype is the number and appearance of chromosomes, and includes their length, banding pattern, and centromere position. To obtain a view of an individual’s karyotype, cytologists photograph the chromosomes and then cut and paste each chromosome into a chart, or karyogram, also known as an ideogram (Figure 13.5).
Figure 13.5 This karyotype is of a female human. Notice that homologous chromosomes are the same size, and have the same centromere positions and banding patterns. A human male would have an XY chromosome pair instead of the XX pair shown, as the Y chromosome is only present in males. (credit: Andreas Blozer et al)
In a given species, chromosomes can be identified by their number, size, centromere position, and banding pattern. In a human karyotype, autosomes or “body chromosomes” (all of the non–sex chromosomes) are generally organized in order of size from largest (chromosome 1) to smallest (chromosome 22). (The X and Y chromosomes, the 23rd pair, are not autosomes.) However, chromosome 21 is actually shorter than chromosome 22. This was discovered after the naming of Down syndrome as trisomy 21, reflecting how this disease results from possessing one extra chromosome 21 (three total). Not wanting to change the name of this disease, scientists retained the original numbering system. The chromosome “arms” projecting from either end of the centromere may be designated as short or long, depending on their relative lengths. The short arm is abbreviated p (for “petite”), whereas the long arm is abbreviated q(because it follows “p” alphabetically). Each arm is further subdivided and denoted by a number. For example, locus 3 on the short arm of chromosome 21 is denoted 21p3. Using this naming system, locations on chromosomes can be described consistently in the scientific literature.
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Anne is a geneticist interested in autosomal and sex-linked genetic disorders. She conducted a study where she gathered all genetic disorder patient files from all hospitals throughout her country. She was interested in documenting the percentage of people in each study group who were affected by genetic disorders and what type of disorder they had. Each patient file included a karyotype of the patient’s genetic make-up.
Case Study 1
Anne has a table in her office that serves as a quick reference to the various autosomal disorders that were researched.
Case Study 2
Anne has another table in her office that serves as a quick reference guide to the various sex-linked disorders that were researched.