Cri Du Chat Syndrome also known as Cat’s Cry Syndrome is a genetic disorder found in about 1 in every 50 000 babies. The reason it is called Cat’s Cry Syndrome is because of the cat-like cry that the babies with this disorder have, it’s the English translation of the French word Cri Du Chat. Our body needs 46 chromosomes for it to function correctly, chromosomes are responsible for all the things we inherit from our parents eg. Eye colours, hair, face shape etc. When diagnosed with Cri Du Chat Syndrome, the child is missing some of the genes on the chromosome number 5 meaning that child is born with delayed development and they also have an intellectual disability.
Mrs. Murphy Honors Biology April 20, 2011 Cri Du Chat Syndrome Cri du chat syndrome is a very rare disorder. It literally means cry of the cat. When someone has it they usually have mental retardation when they grow older. It happens when genetic information on chromosome 5 is missing. One missing piece, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of this syndrome develop.
Eye tests to check for lens dislocation, cataracts or a detached retina. There is a genetic test to see if you have it and who has it in your family. A person receives Marfan syndrome affects 1 in every 5,000 people all over the world. It’s a genetic disease, which means it is caused by a problem with a kid’s genes that happen before birth. The syndrome is passed from parents to children.
Statistics and Pro’s and Con’s of Having a Designer Baby Related For around $12,400, a couple can use in vitro fertilization and choose whether to implant a male or female embryo in the mother's womb. Nearly 8 million babies are born every year with a birth defect. In this number, around 3.2 million of the infants grow up and live disabled. Furthermore, in the United States alone, birth defect statistics claim that these in-born abnormalities are the leading cause of infant mortality in America. Given this fact, many expectant parents are asking, “Where do these defects come from?” What are the common birth defects?
Too large of an amount of bilirubin is reabsorbed from the intestines before the baby gets rid of it in the stool. High levels of bilirubin — usually above 25 mg — can cause deafness, cerebral palsy, or other forms of brain damage in some babies. In less common cases, jaundice may indicate the presence of another condition, such as an infection or a thyroid problem. The American Academy of Pediatrics (AAP) recommends that all infants should be examined for jaundice within a few days of birth. There are a number of common types of jaundice that occur.
Smith and Ellen Magenis, the syndrome results from a deletion on chromosome 17, specifically referred to as deletion 17p11.2 ( Fundukian, 2010). Smith-Magenis Syndrome (SMS) for Dummies Smith-Magenis syndrome is one of the many genetic disorders babies have a risk of being born with. SMS is a relatively rare genetic mutation in the general population that is caused by the deletion on chromosome 17. There are several distinct features of the body parts with SMS including mental retardation. Body parts that are usually directly affected are facial parts, the toes, the fore head, the ears, and the hands.
Chapter 1 INTRODUCTION A. BACKGROUND OF THE STUDY Chromosomal abnormalities which frequently cause physical and cognitive abnormalities for a child throughout life are usually evident at birth. Nondisjunction, deletion translocation, mosaicism, and isochrosome abnormalities are some of the various forms of chromosomal abnormalities (Hatfield, 2008). Nondisjunction is the most common type of chromosomal abnormalities which occur through uneven chromosomal division. During cell division of the cells reproduction, the 46 chromosomes should be divided into half having 23 chromosomes in each new cell.
“Down Syndrome” The most common chromosomal abnormality in humans is Down Syndrome. Down Syndrome is a chromosomal condition where instead of having two copies of chromosome 21, there are three copies of it; also known as trisomy 21. This extra copy of chromosome 21 causes mental retardation, certain facial features, and a delay in growth. The average IQ of children who are diagnosed with Down Syndrome is 50, which is about half of an average child’s IQ. Intellectual disability is the largest form of disability in Down Syndrome cases.
Sam Drafts Khalid Salah Allied Health Sciences Notes on Angelmans Syndrome Angelman syndrome is a ‘neuro-genetic’ disorder that happens in one in 15,000 births. People usually think of Angelman syndrome as autism but it is a lot different. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance problems. People with Angelman syndrome will require life-long help. Angelman syndrome is a very complex genetic disorder that mostly affects the nervous system.
However, the pill went on to cause more than 10,000 babies to be born with birth defects (Science). Thousands of babies had deformities because tests on hamsters and rats showed the pill to be effective. Additionally, “Animal tests on the arthritis drug Vioxx showed that it had a protective effect on the hearts of mice, yet the drug went on to cause more than 25,000 heart attacks and sudden cardiac deaths before being pulled from the market” (Vioxx). Animal testing is extremely misleading in the medical field. Scientists attempt to link the results of testing drugs on animals to its effectiveness on humans.