Cytogenetics

These individuals develop biologically as girls, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma” (Mayo Clinic, 1). Diagnosis of Turner Syndrome and its genetic alterations can occur before a girl has been born through amniocentesis, or at any other point in her life with karyotype, which is a specific blood test that shows the number of chromosomes found in a person’s cells, along with how those chromosomes look physically. In the article Neonatal Detection of Turner Syndrome by Real-Time PCR Gene Quantification of the ARSE and MAGEH1 Genes, Karyotyping is both praised and critiqued for its benefits and limitations. “Karyotyping is considered to be the gold-standard cytogenetic technique for diagnosing TS. This method can be used to detect chromosome abnormalities such as translocations, deletions, inversions, duplications, and mosaicisms. Karyotyping for neonatal screening has important limitations, such as running time, cost, and need for specialized personnel, among others” (Longui, 9069). Because of the aforementioned limitations, new molecular methods are being created to help diagnose and neonatal screen TS. Turner syndrome can prevent a girl from entering into puberty and keep it from occurring. Diagnosis can occur at any stage of life and signs and symptoms include being under five feet tall, having a narrow and high-arched palate, a lower jaw that is not prominent, protruding ears, an excess of…

Did you know that Downs’ syndrome is a condition or a syndrome, not a disease? How about the fact that it is the most commonly occurring chromosomal condition? There is a lot more to Downs’ syndrome than people think. There are many fascinating facts about this condition that are not in the common knowledge! Downs’ syndrome is a genetic disorder which is caused by an error in cell division that results in the presence of an extra copy of chromosome 21. Most of the time the error occurs at…

imbalance of genes on chromosome 21 is why there is molecular dysfunctions in DS. Higher levels of gene expression on chromosome 21 tissues are reported in several studies, where increased copy number do not always correspond with increased gene expression level or gene function. DS presents altered pattern of DNA methylation in genes in two or three copies with functional differences in gene expression. Studies show trisomy 21 results in altered expression of microRNAs (noncoding RNA involved…

information on genetics. The following paragraphs will summarize three organizations that provide information on genetics, genetic counseling, and genetic testing. The summary will include what information is obtainable from the site, who supports the site, and who may use the site to obtain information. The first organization is Gene Testes. Gene test help support the appropriate use of genetic services used in patient care and helps to aid in personal decision making. Gene Tests provides…

the successive intervention of specialized centers. The choice of the nstrumental examinations will be dictated by the specific symptoms of each individual. In any case, it is advisable to carry out, at least at the time of the first diagnosis, an examination of the fundus, an EEG an an ultrasound of the endobdominal organs. Chromosomal abnomalities "cryptic" It is important to emphasize that recurrent molecular cytogenetic techniques, such as the analysis of telomere of all chromsomes or the…

Trisomy 21 is caused by the failure of the chromosome 21 to separate during sperm or egg development. As a result of this, a sperm or egg is produced with an extra chromosome 21. When it is combined with the other normal cell, the baby has 47 chromosomes out of which 3 are chromosomes 21. In 88% of the cases, trisomy 21 arises from the non-separation of the chromosomes in the mother, 8% from the non-separation of the father and only 3% when the egg and the sperm have merged together to form one.…

Imagine living with a disorder and knowing that because of it you will not live to thirty years of age. This is the case for people with Trisomy18 most of the people with this genetic disorder will live to twenty if they are lucky. Trisomy18 is when a baby is still inside the mother's stomach and when developing the baby's cells do not divide correctly which causes cardiac, or heart, lung, and whole body problems to appear. Trisomy18 is caused when chromosome 18 has three chromosomes instead of…

Aagenaes syndrome is a syndrome that portray by congenital hypoplasia of lymph vessels. This causes lymphedema of the legs and recurrent cholestasis in infancy. This also causes slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracks. The genetic cause is unknown, but it is inherited in some way in the chromosomes that it is located in. People who have this suffer severe neonatal cholestasis, but this usually lessons during child hood. After the childhood…

COLUMN 2: Behind Column 1 What causes this disorder? A chromosomal mutation called translocation. Translocation is when the chromosome breaks and a portion of that chromosome reattaches to another chromosome. This chromosome that is affected by this is the 8 and 14 chromosome pair. What are the symptoms? Fever Night Sweats Swollen lymph nodes Weight loss Fever Tiredness Distortion of facial bones COLUMN 6: Back of Brochure What kind of assistance do you need? Watchful waiting…

Genetic Diseases And Disorders Research Paper Down syndrome is a disorder of a person's chromosomes that cause mild to severe physical and mental disabilities. People are affected from birth and until death. Noticeable physical problems include a small skull , a narrowed or flat nose bridge, poor muscle tone, and folds beneath the eyes. It occurs in about one in every 700 births. Nearly 1600 kids are born with down syndrome in the united states. Most people that have down syndrome have…