A list of various genetic disorders of the human chromosomes

Discovery[ edit ] The Y chromosome was identified as a sex-determining chromosome by Nettie Stevens at Bryn Mawr College in during a study of the mealworm Tenebrio molitor. Edmund Beecher Wilson independently discovered the same mechanisms the same year. Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered in by Hermann Henking.

A list of various genetic disorders of the human chromosomes

Introduction and overview

Karyotyping Activity Introduction This exercise is a simulation of human karyotyping using digital images of chromosomes from actual human genetic studies. You will be arranging chromosomes into a completed karyotype, and interpreting your findings just as if you were working in a genetic analysis program at a hospital or clinic.


Karyotype analyses are performed overtimes per year in the U. Imagine that you were performing these analyses for real people, and that your conclusions would drastically affect their lives.

G Banding During mitosis, the 23 pairs of human chromosomes condense and are visible with a light microscope. A karyotype analysis usually involves blocking cells in mitosis and staining the condensed chromosomes with Giemsa dye.

The dye stains regions of chromosomes that are rich in the base pairs Adenine A and Thymine T producing a dark band. A common misconception is that bands represent single genes, but in fact the thinnest bands contain over a million base pairs and potentially hundreds of genes.

For example, the size of one small band is about equal to the entire genetic information for one bacterium. The analysis involves comparing chromosomes for their length, the placement of centromeres areas where the two chromatids are joinedand the location and sizes of G-bands.

You will electronically complete the karyotype for three individuals and look for abnormalities that could explain the phenotype. Your assignment This exercise is designed as an introduction to genetic studies on humans.

A list of various genetic disorders of the human chromosomes

Karyotyping is one of many techniques that allow us to look for several thousand possible genetic diseases in humans. You will evaluate 3 patients' case histories, complete their karyotypes, and diagnose any missing or extra chromosomes.

Then you'll conduct research on the internet to find web sites that cover some aspect of human genetics. If this is an assignment for a class, you should turn in a total of 7 answers on paper 2 for each patient, 1 for the internet search.The Y chromosome is one of two sex chromosomes in mammals, including humans, and many other ashio-midori.com other is the X chromosome.Y is the sex-determining chromosome in many species, since it is the presence or absence of Y that determines the male or female sex of offspring produced in sexual ashio-midori.com mammals, the Y chromosome .

A neurological disorder is defined as any disorder of the body nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms.

A list of various genetic disorders of the human chromosomes

Childhood developmental disorders Developmental disorders of childhood are another large category of mental disorders caused by mutations, deletions, translocations (rearrangements of the arms of chromosomes) and other alterations in genes or chromosomes. Neurological disorders are medically defined as disorders that affect the brain as well as the nerves found throughout the human body and the spinal cord.

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