Please answer the following questions about Apert Syndrom: What is Apert syndrome?Are there variations of this genetic disorder?What are the symptoms and complications?What is the diagnosis?What are the carriers (genes)?What is it like for someone living this way?The first questions have already been answered, so please only answer questions 4-6. Thank you!

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Description: Please answer the following questions about Apert Syndrom: What is Apert syndrome?Are there variations of this genetic disorder?What are the symptoms and complications?What is the diagnosis?What are the carriers (genes)?What is it like for someone li

It is a disease caused by premature fusion or early closure of one or more sutures that seperates…

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What is the diagnosis? What are the carriers (genes)? What is it like for someone living this way? The first questions have already been answered, so please only answer questions 4-6. Thank you!

Nutrition Now

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Author:Brown

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Please answer the following questions about Apert Syndrom: What is Apert syndrome? Are there variations of this genetic disorder? What are the symptoms and complications? What is the diagnosis? What are the carriers (genes)? What is it like for someone living this way?
Cleft lip and cleft palate can be a devastating congenital disorder. Please explain why this disorder occurs and why might this disorder be on the rise?
Can cleft lip be surgically corrected? Sue and Tim were referred for genetic counseling after they inquired about the risk of having a child with a cleft lip. Tim was born with a mild cleft lip that was surgically repaired. He expressed concern that his future children could be at risk for a more severe form of clefting. Sue was in her 12th week of pregnancy, and both were anxious about the pregnancy because Sue had had a difficult time conceiving. The couple stated that they would not consider terminating the pregnancy for any reason but wanted to be prepared for the possibility of having a child with a birth defect. The genetic counselor took a three-generation family history from both Sue and Tim and found that Tim was the only person to have had a cleft lip. Sues family history showed no cases of cleft lip. Tim and Sue had several misconceptions about clefting, and the genetic counselor spent time explaining how cleft lips occur and some of the known causes of this birth defect. The following list summarizes the counselors discussion with the couple. Fathers, as well as mothers, can pass on genes that cause clefting. Some clefts are caused by environmental factors, meaning that the condition didnt come from the father or the mother. One child in 33 is born with some sort of birth defect. One in 700 is born with a cleft-related birth defect. Most clefts occur in boys; however, a girl can be born with a cleft. If a person (male or female) is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, is 7 in 100. Some clefts are related to identifiable syndromes. Of those, some are autosomal dominant. A person with an autosomal dominant gene has a 50% probability of passing the gene to an offspring. Many clefts run in families even when there does not seem to be any identifiable syndrome present. Clefting seems to be related to ethnicity, occurring most often among Asians, Latinos, and Native Americans (1 : 500); next most often among persons of European ethnicity (1 : 700); and least often among persons of African origin (1 : 1,000). A cleft condition develops during the fourth to the eighth week of pregnancy. After that critical period, nothing the mother does can cause a cleft. Sometimes a cleft develops even before the mother is aware that she is pregnant. Women who smoke are twice as likely to give birth to a child with a cleft. Women who ingest large quantities of vitamin A or low quantities of folic acid are more likely to have children with a cleft. In about 70% of cases, the fetal face is clearly visible using ultrasound. Facial disorders have been detected at the 15th gestational week of pregnancy. Ultrasound can be precise and reliable in diagnosing fetal craniofacial conditions.
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After hearing this information, should Sue and Tim feel that their chances of having a child with a cleft lip are increased over that of the general population? Sue and Tim were referred for genetic counseling after they inquired about the risk of having a child with a cleft lip. Tim was born with a mild cleft lip that was surgically repaired. He expressed concern that his future children could be at risk for a more severe form of clefting. Sue was in her 12th week of pregnancy, and both were anxious about the pregnancy because Sue had had a difficult time conceiving. The couple stated that they would not consider terminating the pregnancy for any reason but wanted to be prepared for the possibility of having a child with a birth defect. The genetic counselor took a three-generation family history from both Sue and Tim and found that Tim was the only person to have had a cleft lip. Sues family history showed no cases of cleft lip. Tim and Sue had several misconceptions about clefting, and the genetic counselor spent time explaining how cleft lips occur and some of the known causes of this birth defect. The following list summarizes the counselors discussion with the couple. Fathers, as well as mothers, can pass on genes that cause clefting. Some clefts are caused by environmental factors, meaning that the condition didnt come from the father or the mother. One child in 33 is born with some sort of birth defect. One in 700 is born with a cleft-related birth defect. Most clefts occur in boys; however, a girl can be born with a cleft. If a person (male or female) is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, is 7 in 100. Some clefts are related to identifiable syndromes. Of those, some are autosomal dominant. A person with an autosomal dominant gene has a 50% probability of passing the gene to an offspring. Many clefts run in families even when there does not seem to be any identifiable syndrome present. Clefting seems to be related to ethnicity, occurring most often among Asians, Latinos, and Native Americans (1 : 500); next most often among persons of European ethnicity (1 : 700); and least often among persons of African origin (1 : 1,000). A cleft condition develops during the fourth to the eighth week of pregnancy. After that critical period, nothing the mother does can cause a cleft. Sometimes a cleft develops even before the mother is aware that she is pregnant. Women who smoke are twice as likely to give birth to a child with a cleft. Women who ingest large quantities of vitamin A or low quantities of folic acid are more likely to have children with a cleft. In about 70% of cases, the fetal face is clearly visible using ultrasound. Facial disorders have been detected at the 15th gestational week of pregnancy. Ultrasound can be precise and reliable in diagnosing fetal craniofacial conditions.
Children with this condition has the following features: wide or web-like neck; low-set ears; broad chest with widely spaced nipples; high, narrow roof of the mouth (palate); arms that turn outward at the elbows; fingernails and toenails that are narrow and turned upward; swelling of the hands and feet, especially at birth; slightly smaller than average height at birth; slowed growth; and cardiac defects. The statement applies to Turner syndrome only The statement applies to Down syndrome only The statement applies to both Turner syndrome and Down syndrome The statement applies to neither Turner syndrome nor Down syndrome
Dentinogenesis imperfecta is a rare, autosomal, dominantly inherited disease of the teeth which occurs about one in 8000 (Witkop, 1957). The teeth are somewhat brown in color and the crowns wear down rapidly. Assume that a male with dentinogenesis imperfecta and no family history of the disease, marries a woman with normal teeth. What is the probability that: (a) their first child will have dentinogenesis imperfecta? (b) their first two children will have dentinogenesis imperfecta? (c) their first child will be a girl with dentinogenesis imperfecta?