Deletion is a mutation in which a part of the chromosome or the DNA is absent or lost. It may be inherent, or it may be due to improper chromosomal crossing-over during meiosis. This deletion is responsible for the abnormalities in the patient. One of the known disorders seen due to deletion is the Wolf-Hirschhorn syndrome. Wolf-Hirschhorn syndrome (WHS), first described by Wolf et al[1] and Hirschhorn et al[2], results from the hemizygous deletion of the distal short arm of chromosome 4. Due to
Genetics Assignment No.: 1 Due: 18 September, 2015 Word count: 1000 No. of pages: 8 Karyotypes: Horseplay or nay? Introduction Karyotyping is a test that can be performed on a eukaryotic cell to examine the number and appearance of chromosomes in the nucleus. Karyotyping can be used to help identify genetic problems as the cause of a disorder or disease, such as Down syndrome. A karyotype test is very versatile, and can be performed on almost any tissue, such as blood, bone marrows, amniotic
CONTENTS: 1. Taxonomy 2. Introduction 3. Origin & Geographical distribution 4. Botanical Description 5. Biology 6. Cytogenetics (Karyotype of Diploid) (Karyotype of Polyploid) 7. Scope in Pakistan 8. Problems 9. Products 10. Services 11. Uses SANDALWOOD Kingdom:Plantae Order:Santalales Genus:Santalum Species:album, spicatum,paniculatum etc Family:Santalaceae Chromosome no.2n=2x=20 2n=4x=40 Other names:Fragrant sandalwood, Indian sandalwood, Australian sandalwood, White
The set of chromosomes that an individual has is called the person’s karyotype. A karyotype test is one of the many important tests performed when determining a person’s gender. This test is done by collecting genetic information about a person including their chromosomes. Examining these chromosomes through karyotyping allows determining whether there are any abnormalities or structural problems and also if the person is male or female. A human has 23 pairs of chromosomes. Twenty-two of these pairs
A predicament has occurred, in which you speak in the defense of a young female, considered to be guilty on the basis of hair color. Knowledge of the structure of DNA and its role in heredity, how DNA and RNA work together to produce proteins, and how brown hair can result from various gene combinations , will all be an important asset in determining if the young lady is guilty or not. To begin we must explain the structure of DNA and its role in heredity. As seen in Document A, DNA has a double
The gene locus of this disease is Xp11.2-p22.1. There are many symptoms that could arise from having Turner Syndrome. The Turner Syndrome Society provides the following symptoms: short stature, a high-arched palate, retrognathia, ears protruding outward, a webbed neck (might include a lowered neckline), droopy eyes, strabismus, broad chest, cubitus valgus, scoliosis, flat feet, small and narrow fingernails, short fourth metacarpal and edema. This long list of symptoms can be intimidating, but they
One important topic about evolution is speciation and how species speciate, what this means is how some species diverge into a new and distinct species through the course of evolution. Speciation can happen because of various reasons, the most known are the following four, allopatric, peripatric, parapatric, and sympatric speciation. We are going to try and focus on a different aspect of speciation and that is chromosomes. We are going to look at how the mechanisms of evolution have aided with the
The Influence of Maternal Age on Down syndrome Children born to older parents are at greater risk for genetic abnormalities, such as Down syndrome. No one knows what causes the chromosomal abnormality that results in Down syndrome, a condition according to the National Association for Down syndrome, affects one in 800 to 1,000 babies in the United States. Any woman regardless of her culture, race and socio-economic status can have a baby with Down syndrome. However, a mother’ age seems to be a unifying
from your parents fused. A Karyotype is when you cut out individual chromosomes from a picture and rearrange them. There are matching pairs of chromosomes these are called homologous pairs. Each pair is given a number. One of each pair came from the mother and one of each pair came from the father. The pairs can be distinguished as each pair has a distinctive banding pattern when stained. There are two sex chromosomes and the rest are called autosomes. In most karyotype the sex cells are kept to one
Turner Syndrome Turner syndrome occurs in approximately one in every 2,000 female births (Overview par. 1). Every one in 2,000 girls born may not seem like a great deal, but adds up to be eventually. No matter how many girls have Turner syndrome, they all face challenges because of the chromosomal disease. The syndrome was first discovered in 1938 when Henry Turner published a book about seven girls who shared unique features. The exceptional features included, “short stature, lack of sexual development
Prenatal Diagnostic Testing is when a pregnant woman has genetic testing done within her first three months of pregnancy. Prenatal testing helps to see if your baby has an infectious or sexually transmitted disease, or a problem that is preexisting making the women have a high-risk pregnancy . (Prenatal diagnosis) This genetic testing was prevented to help women see if her child has a genetic disorder, like down syndrome. This testing is done in three stages which are blood testing, a special kind
Trisomy 21 or more commonly known as down syndrome is a condition in which an individual has a full or partial extra copy of chromosome 21 (What is Down Syndrome?, 2012). It was first described as a disorder in 1866 by doctor John Langdon Down and it is the most common cause of cognitive impairment (Heyn, 2014). Today there are three known types of down syndrome trisomy 21 or called nondisjunction, translocation, and mosaicism. Regardless of the type of down syndrome a child may have, they all have
Jacob Syndrome is a rare condition where males contain an additional copy of the Y chromosome in their cells. According to the Genetic and Rare Diseases Information Center, (GARD, 2012), other names for Jacob Syndrome include: 47, XYY syndrome, XYY Karyotype, and YY syndrome. Statistics from Genetics Home Reference (2014) state that Jacob Syndrome appears in approximately 1 in 1,000 male newborns. In the United States, 5 to 10 male newborns have Jacob Syndrome. Normally those who are affected with Jacob
later more conclusive test will be scheduled. During the 15th to 18th week of pregnancy, an amniocentesis or chorionic villus can be performed to have a detailed analysis of the fetal chromosomal material which will show any abnormalities in their karyotype. There is a slight risk with both procedures of injury of the fetus or possible miscarriage. Newer testing has been developed as “non-invasive prenatal diagnosis,” which involves extracting fetal DNA from the mother’s blood sample. After birth, diagnosis
Down Syndrome Down's Syndrome, it is one of the most frequently occurring chromosomal abnormalities found in humans effecting people of all ages, races and economic levels. It is a chromosomal anomaly in cell development that results in a person being born with forty-seven chromosomes instead of the normal forty-six chromosomes. People with Down syndrome may have mild to severe learning disabilities and physical symptoms, which include a small skull, extra folds of skin under the eyes, and a
Turner’s Syndrome Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually
A child is considered to have speech delay if the child’s speech development is significantly below the normal for the children in the same age. SPEECH DEVELOPMENT 1-6 months Coos 6-9 months Babbling 10-11 months Mama – Dada with meaning 12 months 3 words + mama/ dada 13-15 months 4-7 words 16- 18 months Vocabulary of 10 words 19-21 months Vocabulary of 20 words 22 -24 months Vocabulary of >50 words 2 – 2 ½ years Two word phrase 3 – 4 years 3-6 words in sentences, ask questions, tell stories, all
of happiness. This kind of expression is associated with general exuberance and profuse smiling and laughing, as well as an elated personality. Due to the name and the joyful demeanor, carriers of this syndrome are called Angels. The normal human karyotype comprises 22 chromosomes from the mother, and 22 from the father. AS is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. However, if the paternal contribution
KLINEFELTER SYNDROME Klinefelter Syndrome is a syndrome in which a person has an additional X- chromosome. It is not life consuming, but rather people who have this syndrome can live perfectly normal lives proper treatment and care. If precautions are taken early on. Dr. Harry Klinefelter and his co-workers at Massachusetts center hospital in Boston in 1942 first identified the syndrome. These men were of the first to publish a report on this syndrome in its whole, so as to not leave any questions
Mapping the Human Genome Vision- In the past, the discovery of human disease genes has historically been an arduous undertaking. Extensive and exhaustive studies of genetic inheritance and pedigrees in generations of families led to the discovery of the color blindness gene on the Y chromosome in the early 1990's. As more biological tools became available, the pace of gene discovery increased. However, much of the biological laboratory practices were still rooted in intensively manual procedures