Chromosomal Conditions In 150 Babies

discoveries is information regarding chromosomal and genetic disorders. Both chromosomal and genetic ailments can have harmful effects on the body. Genetic diseases such as Bloom's Syndrome occur as a result of gene alterations. These gene mutations cause the chromosomes to become unstable, leading to chromosomal breaks, separations and structural repositioning (Freivogel 170). Chromosomal diseases like Charcot-Marie Tooth Disease are also caused by mutations, which are nearly irreversible (Krajewski 232).

Chromosomes are structures inside cells that are made of genes. They carry the genetic information about how the body develops. Normal cells have 23 pairs of chromosomes in each cell. Having an extra chromosome in all or some cells (mosaicism) changes the way these cells develop and function. It interferes with normal growth and development while a baby is in the womb. Trisomy 13 and 18 lead to a number of serious developmental defects. These defects make survival unlikely beyond the first year of life.

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome 22 Central, 2016). Before this time, individuals who had symptoms of this disorder were diagnosed with varying names such as, Cat Eye Syndrome, 22 Syndrome, or 22q11.2 Deletion Syndrome. In 2004, a support parent group for children with these

As a result, the missing chromosome can cause over 50 abnormalities that include: Anderman syndrome, Angelman syndrome, ataxia neuropathy spectrum, Bloom syndrome, breast cancer, Marfan syndrome, Prada-Willis syndrome, Tay-Sachs disease, and a lot more, depending on which gene is affected. Generally, the most common observable behaviors are: intellectual disability, seizures, psychiatric disorders, distinctive facial features and moodiness. Of particular interest is Angelman syndrome which is also a sex-linked disorder. But regardless of the source of inheritance, this disorder can be observed as any of the above listed behaviors or medical

Down syndrome is caused by having an extra chromosome on the twenty-first chromosomal pair. People with down syndrome have forty-seven pairs of chromosomes. There are three types of down syndrome and they are Trisomy 21, Translocation, and Mosaicism. Trisomy 21 is the most common type of down syndrome. It occurs when there are three rather than two, number 21 chromosomes present in every cell of the body. Trisomy 21 accounts for ninety-five percent of the down syndrome population. Translocation unlike Trisomy 21 only accounts for four percent of the down syndrome population. In this case, part of the twenty-first chromosome breaks off during cell divas and attaches itself to another chromosome, usually chromosome 14. Mosaicism is the rarest

Trisomy 9 Mosaicism syndrome is an uncommon chromosomal condition in which the entire 9th chromosome appears three times, rather than twice in some cells of a person. This disease symptoms may vary greatly in severity, depending on the percentage of cells with the extra chromosome. Some of its common features involve pre-natal growth deficiency, mental retardation, structural malformations of the heart at birth, and physical abnormalities of the skull and facial region. Trisomy 9 Mosaicism can be caused by errors during the division of the parent's reproductive cells or during the division of body tissue cells early in the development of the embryo. Chromosomes are even subdivided into bands that are numbered outward from the centromere. For

Aneuploidy is when there is a deletion or duplication of a single chromosome (Pierce, 2013, p. 159). Alteration in the number of chromosomes can affect the health of an individual. One good example of aneuploidy is the Trisomy 13, also known as Patau syndrome. This condition is caused by an extra 13thchromosome, instead of the normal two copies. It occurs in about 1 out of every 10,000 newborns and affects female slightly more than the male. Babies who are born with this disorder have many abnormalities. Affected infants will present with intellectual and physical abnormalities that include brain and spinal cord abnormalities, heart defects, kidney defects, and extra fingers or toes. Their head is smaller than the normal baby, they have cleft

Different types of arrangements can lead to different kinds of diseases such as; Charcot-Marie-Tooth disease type I , Hereditary neuropathy with pressure palsies, Smith-Magenis syndrome, Williams-Beuren syndrome, etc. An aneuploidy causes a change in the chromosome number that is not the exact multiple of the haploid karyotype. It interferes with growth and development of an organism and it's a common characteristic of solid tumors. It can cause developmental abnormalities.

Syndromes and deformations occur while the child is still in the womb of the mother. Syndromes such as, Edwards Syndrome, Klinefelter's Syndrome, Bloom Syndrome, and Turner Syndrome, research shows that a variety of these deformations occur with complications regarding the chromosomes( shown on karyotype chart). Most of these complications are not hereditary or genetically passed through the parents. All though these syndromes are not hereditary or genetically passed the life expectancy of these unfortunate beings goes no higher than twenty-seven years, some do not even survive childbirth.

There are four types of chromosome structure changes each one can cause a disease or syndrome depending on which chromosome is affected and the type of change that occurs. When portions of the DNA segment are deleted, such as chromosome 7 losing a tiny end piece, the result is Williams Syndrome. Such is the case with Cri du chat syndrome when an end piece of chromosome 5 is deleted. Translocations, where a segment of DNA detaches from one chromosome and reattaches to another, can be responsible for some cancer formations. Translocation of a part of chromosome 22 to chromosome 9 causes chronic myelogenous leukemia whereas translocation of a part of chromosome 8 to 14 causes Burkitt lymphoma. Inversion where a segment of DNA is rotated 180° usually

Down syndrome is a genetic alteration that occurs by the presence of an extra chromosome. The cells of the human body have 46 chromosomes in 23 pairs distributed. One of

Genetic abnormalities are the result of issues that arise in the genes through defects in the DNA material. Occasionally a mutation or sudden change in a gene present in the nucleus of the cells is the cause of genetic contamination. Unique conditions are experienced in the body of the person affected by these abnormal DNA materials. People having these disorders are usually affected before birth when the combination of genetic material is hampered during fertilization of the embryo, although there prevail, such cases where abnormalities are experienced as the age passes during after birth. Genetic issues can also be passed on from parents to the children in heredity. Latest studies have come up with a report saying, if an elderly person decides to have kids, it might lead to the increase in creation abnormalities in the genes of their child.

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.

The very first discoverable case of uniparental disomy was when a child with cystic fibrosis was reported as having two copies of the maternal chromosome 7 (Engel 1998). Scientists were intrigued with the occurrence of this, so they started wondering about how much of the population possessed unequal amounts of paternal and maternal chromosomes. They started looking at all of the possible uniparental chromosomal pairs, and found that 29 of the 47 were likely to cause abnormalities. Finding evidence for uniparental disomy included observing any imprinting disruptions, how recessive genes were inherited, and anomalous chromosomal patterns (Engel 1998). The results from this study was that there were some phenotypes that kept showing up, and

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.