The CHARGE Syndrome - 628 Words

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014). CHARGE syndrome is a genetic condition believed to be the result of a sporadic heterozygous mutation in the CHD7 gene. Experiments to determine the precise mutations within the CHD7 gene have concluded that mutations are scattered throughout the gene and include nonsense, frameshift and missense mutations as well as intragenic deletions (Martà ­nez-Quintana et al., 2014). Intragenic deletions were initially reported in 2004 by a team who optimized array comparative genome hybridization (CGH) for high-resolution genome-wide screening of copy-number variations. Array CGH has since become a valuable, genome-wide screening tool for the detection of chromosomal aberrations in the form of copy number imbalances. By utilizing array CGH in two individuals with CHARGE syndrome, the team was able to report a 2.3 Mb de novo overlapping microdeletion on chromosome 8q12 (Vissers et al., 2004).Show MoreRelatedTaking a look at Tourette Syndrome892 Words   |  4 PagesTourette syndrome (TS) is a disorder of the brain that is observed in people who have involuntary movements or vocalizations called tics. Named after Dr. Georges Gilles de la Tourette who first discovered this disorder, this French neurologist described a noblewoman who exhibited these symptoms in 1885. These tics could range from repetitive movements to inappropriate vocalizations. Early symptoms of Tourette syndrome occur in children at around 3 and 9 years and occur in equal percentages inRead MoreMr. B Girl When First Evaluated By Me994 Words   |  4 PagesDr. R called with a concern that pt was hospitalized recently and since then she appeared to have developed PTSD, having difficulty sleeping has dreams per description to mother about being hurt and can become very tearful. The patient has Charge syndrome. A number of features consistent with this diagnosis, although she did not pass genetically for the disorder. She does not see in 1 eye. She was born with a heart defect. Did not have atresia of choanal. Does have some genital abnormalitiesRead MoreThe Willowbrook Hepatitis Experiments By Dr. Saul Krugman1408 Words   |  6 Pagesno longer feel safe trying to find prenatal care or choose to have an abortion instead of carrying the fetus full term. 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