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Autosomy 18 Research Paper

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ABSTRACT Trisomy 18 is a common autosomal trisomy syndrome. It is due to either full or partial presence of an extra copy of chromosome 18. Its prevalence correlates positively with advanced maternal age. Affected infants usually exhibit a variable pattern of anomalies including growth restriction, marked psychomotor and cognitive disability and an array of physical findings including characteristic craniofacial features, clenched fists with overriding fingers, small fingernails, underdeveloped thumbs, short sternum and heart and kidney anomalies. The majority of these infants die within the first year of life; only 5% to 10% of them survive longer. Their death is primarily due to cardio-respiratory failure. We report this case of trisomy …show more content…

The laboratory evaluation for sepsis was reported later as negative. Subsequent abdominal ultrasonogram revealed a left sided hydronephrosis. Echocardiogram confirmed the presence of multiple small ventricular septal defects (VSD), patent ductus arteriosus (PDA) of moderate size and markers of pulmonary hypertension. After discussion with surgical services two management options were considered; the first was surgical intervention to facilitate patient care and possibly ameliorate the course of illness and the second was the expectant conservative management. As the long-term outcomes were dependant on the final diagnosis, parents and treating team opted for no surgical intervention at this stage. The following days were significant for gradual deterioration of respiratory functions requiring mechanical ventilation whereas circulatory status remained

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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

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A case is presented at the hospital of a 2-month-old child, diagnosed with down syndrome, and currently recovering from a case of bronchiolitis. The child, Elisa, is also diagnosed with Tetralogy of Fallot, and she will undergo surgery to correct this defect once she has had time to recover from her bronchiolitis. Elisa is the sixth child or Maria and Hector. She has three brothers and two sisters who range in age from 10 to 25 years old.

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Risk for Infection Next, by implementing the VAP bundle, it did help to prevent further decline. All aspects of the bundle should be continued; the Heparin, sequential compression devices, oral care, Pepcid, and all other bundle activities. Having the head of the bed up was essential to prevent VAP, but it did end up making her body move to the foot of the bed. Pillows were used to help keep her further up and off the side of the bed.

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Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

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This is mostly called Trisomy 13 which is also called Patau syndrome which is an extra copy of the chromosome 13. This is a chromosomal condition associated with severe cerebral disability and physical abnormalities in many parts of the body. People that have or know someone with trisomy 13 often have heart defects, brain or vertebral irregularities, poorly developed eyes, extra digits , an opening in the lip which is known as cleft lip with or without an opening in the roof of the mouth that is a cleft palate, and weak muscle tone . Due to the actuality of several life-threatening medical complications, many babies with trisomy 13 pass away within their first days or weeks of their

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Annette’s reason for admittance at the hospital is an overall weakness, flu-like symptoms, and difficulty with breathing (Prizio, n.d.). She is diagnosed with diabetic acidosis, left upper lobe pneumonia, and a bacterial infection (Prizio, n.d.). Unfortunately, her condition becomes worse. Annette’s right lung collapses, her heart rate is irregular, and she has an episode of unresponsiveness that leads to mechanical ventilation (Prizio, n.d.). Annette has challenges weaning off the mechanical ventilation, which resulted in the placement of a tracheostomy and percutaneous endoscopic gastrostomy tube (Prizio, n.d.).

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Familial dysautonomia (FD), also called Riley Day Syndrome and hereditary and sensory autonomic neuropathy type 3 (HSAN3), is an inherited disorder that affects the development and survival of some sensory and autonomic neurons.4,5 It is almost exclusively present in Ashkenazi Jews. About 1 out of 32 Ashkenazi Jews are carriers. The disease frequency is 1 out of 3700 for Ashkenazi Jews.5 Familial dysautonomia is exceedingly rare in the non Ashkenazi Jewish population.

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Down syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.

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There is a woman named Elaine, she is the longest living patau syndrome patient ever. She was born and diagnosed with patau thought to have 3 days- 2 months to live, she is now 23 years old and is still surviving patau syndrome. The doctors who diagnosed it to her are mesmerized how she has survived this long. Most cases of trisomy 13 are not a result from random events during the crossing of the eggs and sperm in the parents. An error in cell division called nondisjunction results in an egg or sperm cell with an higher number of

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Although the primary aspect of Poland Anomaly is the underdevelopment or lack of a pectoral muscle, there are many other effects of the disorder. Symptoms of this disorder include the underdevelopment or lack of a pectoral muscle and nipple, webbed fingers with a shorter than average length, lack of armpit hair, skin in affected areas being hypoplastic, underdevelopment or lack of the upper rib cage, occasionally affecting the shoulder blade, and in extremely rare cases, spine or kidney problems may arise (National Human Genome Research Institute). Poland Anomaly observed within families reveals that it can be passed down from parent to offspring, whether the disorder

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Their lifespan is not heavily affected by Triple X Syndrome. Down Syndrome Down Syndrome occurs when an individual receives an extra copy of chromosome 21. It can affect both males and females. Regardless of the severity, people with Down Syndrome have a characteristic appearance. Physical signs of Down Syndrome include a smaller and abnormally shaped head, flattened nose, small ears and mouth, upward slanting, rounded eyes, and short, wide, hands with short

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The abnormalities include defects of the mitral and tricuspid valves, patent ductus arteriosus, ventricular septal defect, atrial septal defect and hypoplastic left heart syndrome which are the principal causes of decreased life-expectancy in these patients.(6) The presented case also demonstrated characteristic findings of EVCS which included polydactyly of the hands and feet and history of congenital cardiac defect which was operated two years ago. EVCS is a condition with a diverse oral manifestations which include hyperplastic frenula, absence of mucobuccal fold , serrations of the alveolar ridge, partial cleft lip, neonatal teeth, peg shaped laterals , partial anodontia, conical and microdontic teeth and delayed eruption of teeth.(10) In the present case, we reported similar dental manifestations like oligodontia, generalized microdontia, serrations of alveolar ridge, conical shaped teeth with abnormal occlusal anatomy, multiple labial freni, delayed eruption of teeth which was suggestive of

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Even earlier, shortly after birth, It was found that the infant‘s valve of the pulmonary artery had not adequately formed, blocking blood from flowing through

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Thesis: Down syndrome is a wide range of development delays and physical disabilities caused by a genetic disorder. Down syndrome (Trisomy21) Down syndrome is also called Trisomy 21. It is a condition in which a person is born with an extra chromosome.

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