12 Aug response 3
Turner syndrome is a chromosomal anomaly that is correlated to a missing X chromosome or structurally-altered X chromosome in females. About 50% of affected individuals have monosomy X, meaning they only have one copy of the X chromosome instead of the normal amount of 2 X chromosomes. Turner syndrome can also result from a partially missing or rearranged X chromosome rather than the complete absence of an X chromosome. Nondisjunction (incorrect separation) occurring during cell division can result in an abnormal number of chromosomes. Mosaicism does occur with Turner syndrome, meaning affected individuals have chromosomal changes in some not all of their cells. Mosaicism leads to high phenotypic variability amongst affected individuals. The most common clinical presentation of an individual with Turner syndrome includes short stature and infertility. Scientists have suggested that affected individuals stature and skeletal abnormalities result from the loss of one copy the SHOX gene. The prevalence of Turner syndrome is approximately 1 in 2,500 newborn females. The prevalence is much higher amongst pregnancies that do not carry to term, resulting in miscarriages or stillbirths. There is no cure for Turner syndrome, however treatment for affected individuals is symptom-specific. Growth hormone therapy can help to regulate height. Most affected females undergo sex hormone replacement therapy in order to normalize development marked by puberty. Early intervention is important for children with Turner syndrome to maximize growth potential and minimize severe symptoms.
Response to LZ
The anomaly that I chose to study was Cleft lip/ Cleft palate which is when the oral area contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the roof of the mouth contains an opening into the nose. If the cleft does not affect the palate structure of the mouth, and only is visible on the lip it is referred to as only a cleft lip. Genetic factors contributing to cleft lip and cleft palate formation have been identified for some syndromic cases. Clefts typically run in families, but in some cases there does not seem to be any one with it beforehand. A number of genes are involved including the transmembrane protein 1 and GAD1, some studies found an association between mutations in the HYAL 1 gene as well. Infants born with this suffer from feeding problems and speech problems as they get older. Cleft lip and palate is very treatable; however, the kind of treatment depends on the type and severity of the cleft and how much the parents want to risk with their child. After birth they try to do surgery within the first 2–3 months to close the cleft lip. It is not a very risky surgery. Most children with surgery or not are able to function in all other aspects properly, just depending on what route is taken at birth will their symptoms progress into getting better or worse later on in adolescence.
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