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By the end of this section, you will be able to:
  • Describe how a karyogram is created
  • Explain how nondisjunction leads to disorders in chromosome number
  • Compare disorders caused by aneuploidy
  • Describe how errors in chromosome structure occur through inversions and translocations

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.

Identification of chromosomes

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 ( [link] ).

This is a karyotype of a human female. There are 22 homologous pairs of chromosomes and an X chromosome.
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. (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 approximate order of size from largest (chromosome 1) to smallest (chromosome 22). The X and Y chromosomes 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 important disease, chromosome 21 retained its numbering, despite describing the shortest set of chromosomes. 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. Using this naming system, locations on chromosomes can be described consistently in the scientific literature.

Career connection

Geneticists use karyograms to identify chromosomal aberrations

Although Mendel is referred to as the “father of modern genetics,” he performed his experiments with none of the tools that the geneticists of today routinely employ. One such powerful cytological technique is karyotyping, a method in which traits characterized by chromosomal abnormalities can be identified from a single cell. To observe an individual’s karyotype, a person’s cells (like white blood cells) are first collected from a blood sample or other tissue. In the laboratory, the isolated cells are stimulated to begin actively dividing. A chemical called colchicine is then applied to cells to arrest condensed chromosomes in metaphase. Cells are then made to swell using a hypotonic solution so the chromosomes spread apart. Finally, the sample is preserved in a fixative and applied to a slide.

The geneticist then stains chromosomes with one of several dyes to better visualize the distinct and reproducible banding patterns of each chromosome pair. Following staining, the chromosomes are viewed using bright-field microscopy. A common stain choice is the Giemsa stain. Giemsa staining results in approximately 400–800 bands (of tightly coiled DNA and condensed proteins) arranged along all of the 23 chromosome pairs; an experienced geneticist can identify each band. In addition to the banding patterns, chromosomes are further identified on the basis of size and centromere location. To obtain the classic depiction of the karyotype in which homologous pairs of chromosomes are aligned in numerical order from longest to shortest, the geneticist obtains a digital image, identifies each chromosome, and manually arranges the chromosomes into this pattern ( [link] ).

At its most basic, the karyogram may reveal genetic abnormalities in which an individual has too many or too few chromosomes per cell. Examples of this are Down Syndrome, which is identified by a third copy of chromosome 21, and Turner Syndrome, which is characterized by the presence of only one X chromosome in women instead of the normal two. Geneticists can also identify large deletions or insertions of DNA. For instance, Jacobsen Syndrome—which involves distinctive facial features as well as heart and bleeding defects—is identified by a deletion on chromosome 11. Finally, the karyotype can pinpoint translocations , which occur when a segment of genetic material breaks from one chromosome and reattaches to another chromosome or to a different part of the same chromosome. Translocations are implicated in certain cancers, including chronic myelogenous leukemia.

During Mendel’s lifetime, inheritance was an abstract concept that could only be inferred by performing crosses and observing the traits expressed by offspring. By observing a karyogram, today’s geneticists can actually visualize the chromosomal composition of an individual to confirm or predict genetic abnormalities in offspring, even before birth.

Questions & Answers

there are 3 trimester in human pregnancy
ROHIN Reply
I don't know answer of this question can u help me
ROHIN
yes
Bisa
what is a cell
Fatima Reply
what is genetic
Janet Reply
I join
Janet
what are the branchas of biology
Prisca Reply
zoology, ecology
Millicent
biochemistry,cytology,herpetology...etc
R0se
genetics, microbiology,botany and embryology
Muhammad
what is a cell
Kulunbawi Reply
cell is smallest unit of life. cells are often cell the building blocks of life...
Muhammad
the first twenty element
Orapinega Reply
what are the characteristics of living things?
R0se
growth,respiration,nutrition,sensitivity, movement,irritability, excretion,death.
Obinna
What is the difference between adaptation and competition in animals
Adeyemi Reply
What is biology
Adeyemi
it is a natural science stadey about living things
Zamiil
Biology is the bronch of science which deals with the study of life is called biology
Aziz
what is the x in 300 stands for?
Ogbudu Reply
the properties of life
Clarinda Reply
response to the environment, reproduction, homeostasis, growth,energy processing etc.....
Pushpam
hello.
Daniela
hi
MacPeter
Good
Thomas
what is reproduction
Tims
Reproduction is a fundamental feature of all known life,each individual organism exist as a result of re production.....or else Multiplying...
R0se
a complete virus particle known as
Darlington Reply
These are formed from identical protein subunitscalled capsomeres.
Pushpam
fabace family plant name
Pushpam Reply
in eukaryotes ...protein channel name which transport protein ...
Pushpam Reply
in bacteria ...chromosomal dna duplicate structure called
Pushpam
what is a prokaryotic cell and a eukaryotic cell
Matilda Reply
There are two types of cells. Eukaryotic and Prokaryotic cells. Prokaryotic cells don't have a nucleus or membrane enclosed organelles (little organs within that cell). They do however carry genetic material but it's not maintained in the nucleus. Prokaryotic cells are also one celled.
juanita
Prokaryotic cells are one celled (single celled).
juanita
Prokaryotic cells are Bacteria and Archea
juanita
Prokaryotic cells are smaller than Eukaryotic cells.
juanita
Eukaryotic cells are more complex. They are much bigger than Prokaryotic cells.
juanita
Eukaryotic cells have a nucleus and membrane bound organelles.
juanita
Eukaryotic cells are animals cells which also includes us.
juanita
Eukaryotic cells are also multicellular.
juanita
nice explaination
Amna
eukaryotic cells are individual cells .. but eukaryotes are multicellular organisms which consist of many different types of eukaryotic cells
Will
also eukaryotic cells have mitochondria. prokaryotic cells do not
Will
Good
John
in prokaryotes only ribosomes are present... in eukaryotes mitochondria ...glogi bodies ..epidermis .....prokaryotes one envelop but eukaryotes compartment envelop....envelop mean membrane bound organelles......
Pushpam
prokaryotic cell are cells dat have no true nuclei i.e no cell membrane while eukaryotic cell are cell dat have true nuclei i.e have cell membrane
Divine
grt
Thomas
we have 46 pair of somatic cell and 23 pair of chromosomes in our body, pls can someone explain it to me. pls
Matilda Reply
we have 22 pairs of somatic chromosomes and one pair of sex chromosome
Amna
thanks
Matilda
we have 23 pairs of chromosomes,22 pairs of somatic and one pair of sex chromosomes
Amna
23 chromosomes from dad & 23 chromosomes from mom 23 +23=46 total chromosomes
juanita
X & Y chromosomes are called sex cells, the very presence of a Y chromosome means the person is Male.
juanita
XX Female XY Male
juanita
If a Karyotype has more than 46 Chromosomes then nondisjunction occured. For example, having an extra chromosome 21 will cause Down Syndrome.
juanita
in mammal state the different vertebrae and their location in the body
Igbinigie Reply

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Source:  OpenStax, Biology. OpenStax CNX. Feb 29, 2016 Download for free at http://cnx.org/content/col11448/1.10
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