Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and
A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder.
a. The majority of the people diagnosed with Down Syndrome have it because of a faulty cell division called nondisjunction i. Nondisjunction happens with one of the pairs of the chromosomes fail to separate, resulting in the three 21 chromosomes ii. Total number of chromosomes equals 47 b. According to …. 3-4% of Children with Down Syndrome get it through gene translocation i. Gene translocation happens during cell division. This happens when part of the chromosome 21 breaks off and attaches to another
Trisomy 18, or Edwards Syndrome, was discovered by a man named John Hilton Edwards in 1960, and is a condition that causes severe developmental delays because of an extra chromosome 18. Edwards was a professor of genetics at Birmingham and Oxford, he first saw Trisomy 18 in stillborn and abnormal babies. Trisomy 18 is the second most common trisomy after Trisomy 21. Trisomy 18 is not inherited, but completely random, it is caused by an error in cell division known as meiotic disjunction. The following essay will go over the signs, symptoms, mutation, and how to make the child with Trisomy 18’s everyday life as normal as possible.
Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s
Duchenne Muscular Dystrophy occurs on the DMD gene, but the DMD gene is on the X chromosome. This means it is sex-linked, or in the sex chromosomes, but it is also a recessive gene. This means that males are more likely to get it because they only have one copy of the X chromosome, so there is no other healthy X chromosome to compensate for their mutated one. Since Duchenne Muscular Dystrophy is sex-linked, it does have a hereditary component. The following Punnett Squares show the likelihood of parents who are Heterozygous, Homozygous Dominant, or Homozygous Recessive offspring having Duchenne Muscular Dystrophy.
Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder.
is a 3-day-old male, who has a medical history of heart defects, extra fingers, cleft lip, and hypotonia. Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first
“Every human has an MAOA gene. ... The MAOA gene is located on the X chromosome, which means that while women have two copies, men only have one.... There are a few variants of the gene, one of which -- MAOA-3R, present in about 30 percent of men -- has been shown over and over again, in
Super male syndrome Nick Robbertse 47, XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male’s cell. Although males with this XYY syndrome may be taller than the average man, Most males with 47, XYY syndrome have normal sexual development and are allegeable to father children. XYY syndrome has increased risk of learning disabilities and delayed development of speech and other language skills. Delayed development of motor skills such as sitting and walking and also weak muscle tone, hand tremors or other involuntary movements, and behavioural and emotional difficulties are also potential.
Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays.
Psychologist says that being a victim of this syndrome have various negative impact on the child. As most of parent’s attention goes to oldest and youngest siblings so