Chromosomal Abnormalities Joyce Ortega

// Down Syndrome //

What Is it? Down Syndrome is when a person is born with an extra chromosome and it causes for the person to have delays in the way that they develop both mentally and physically.

Why it occurs? No one knows why Down Syndrome occurs, it just happens. It seems to happen as a random occurrence during cell division early in fetal development

How it occurs? In the human body there is a nucleus and in that, nuclear genetic material is stored. The average human has to have 23 pairs of chromosomes in the nucleus of each cell, half that are carried from each parent. When it comes to down syndrome along the process it occurs that an individual has a full or partial extra copy of chromosome 21.

Who it occurs to? Research shows that one in every 700-800 babies in the United States are born with DS. This makes it the most common chromosomal condition. It is said that there are about 6,000 babies with DS born in the United States each year.

Down Syndrome doesn't define who you are.

// Klinefelter Syndrome //

What is it? Klinefelter Syndrome is a genetic disorder that affects Males. This disorder causes for them to have some physical traits that are unusual for males.

Why it Occurs? Klinefelter Syndrome occurs because there is an extra X chromosome in males. It usually takes place when the genetic material in the egg splits unevenly. It can also take place when the genetic material in the sperm splits unevenly.

How it Occurs? People have two sex chromosomes in each cell, females have two X chromosomes and males have one X and one Y chromosome. Klinefelter syndrome results from the presence of one extra copy of the X chromosome. The extra copies of genes on the X chromosome come in contact and disrupt male sexual development, often preventing the testes from functioning normally and reducing the levels of testosterone.

Who it Occurs to? Klinefelter syndrome occurs as a random error and it occurs to males born with an extra sex chromosome. It isn't an inherited condition.

// Turner Syndrome //

What is it? TS is a chromosomal disorder where a female is born with only one X chromosome

Why it occurs? Turner Syndrome happens because throughout a process there becomes a missing or incomplete sex chromosome.

How it Occurs? Turner syndrome occurs when only one of the two X chromosomes which are usually or normally found in women is missing or it is incomplete. It is said that the cause of Turner syndrome is not known. They also say that it appears as a result of random error during the formation of either the eggs or sperm

Who it Occurs to? This rare chromosomal disorder affects females.

// Color Blindness //

What is it? Color blindness is basically a color vision deficiency This means that the perception of them being able to see colors is different from what most of us see. People with color blindness don't see differences among colors.

Why it occurs? Color blindness occurs because the gene that is responsible for this condition is carried on the X chromosome. This is actually the reason why many more men are affected than women.

How it Occurs? It occurs because there are either photopigment defects in the three different kinds of cones that respond to blue, green, and red light. And sometimes color blindness can even be caused by physical or chemical damage to the eyes.

Who it occurs to? 8 percent of men and 0.5 percent of women have the form of color blindness. It is noticed that Men are much more likely to be colorblind than women because the genes responsible for the inherited color blindness are on the X chromosome. People can inherit color blindness.


Created with images by Hey Paul Studios - "Female Karyotype, 2014"

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