A 43-year-old (gravida 2, para 2) pregnant woman requests chorionic villus sampling (CVS) and a karyotype of her fetus because of concerns about Down syndrome. Chorionic villus cells reveal the following karyotype: 2 3 5 7 8 10 11 12 13 14 15 16 17 18 %3D 19 20 21 22 X X Y With this karyotype from CVS, discussion of the results with a genetic counselor would include which one of the following? a. Normal child b. Male with mild to moderate learning problems and infertility c. Female with mild to moderate learning problems and delayed puberty d. Generally normal male, however some degree of short stature and precocious puberty e. Generally normal female, however some degree of short stature and infertility

A 43-year-old (gravida 2, para 2) pregnant woman requests chorionic villus sampling (CVS) and a karyotype of her fetus because of concerns about Down syndrome. Chorionic villus cells reveal the following karyotype: 2 3 5 7 8 10 11 12 13 14 15 16 17 18 %3D 19 20 21 22 X X Y With this karyotype from CVS, discussion of the results with a genetic counselor would include which one of the following? a. Normal child b. Male with mild to moderate learning problems and infertility c. Female with mild to moderate learning problems and delayed puberty d. Generally normal male, however some degree of short stature and precocious puberty e. Generally normal female, however some degree of short stature and infertility

Name: A 43-year-old (gravida 2, para 2) pregnant woman requests chorionicvi
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Description: A 43-year-old (gravida 2, para 2) pregnant woman requests chorionicvillus sampling (CVS) and a karyotype of her fetus because of concerns aboutDown syndrome. Chorionic villus cells reveal the following karyotype:2378101112131415161718%3D19202122X X

3-2-1 Code It

6th Edition

ISBN:9781337660549

Author:GREEN

Publisher:GREEN

Chapter8: Introduction To Cpt Coding

Section: Chapter Questions

Problem 2CPTS

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Please summarize and make the following paragraph about treacher collins syndrome disease into important bullet points. Thank you!! A mutation in the TCOF1 gene causes up to 93% of Treacher Collins syndrome cases. This gene, which is found on chromosome 5, is in charge of facial developnent. TCOF1 changes spontaneously in around half of all cases at conception, but no one knows what causes the change. In addition, Treacher Collins syndrome is inherited as an autosomal dominant condition in some cases. This indicates that the child inherits the Treacher Collins syndrome gene from one parent and an unaffected copy from the other. Changes in the POLRIC and POLRID genes may be responsible for another 2% of instances. It's unclear how the mutations in the genes create facial abnormalities. However, during weeks three to eight of embryonic development, they are thought to trigger apoptosis (cell death) of facial bone, cartilage, and soft tissue.
Kara is B-positive and her father has A-negative blood. Kara marries Ryan, who is A-negative. Ryan’s father has O-positive blood. (e)What are the phenotypic ratios of blood types (for both the ABO gene and Rh gene) that would be expected among their children? (Show your work in a Punnett square below!)
The Xg cell-surface antigen is coded for by a gene located on the X chromosome. No equivalent gene exists on the Y chromosome. Two codominant alleles of this gene have been identified: Xg1 and Xg2. A woman of genotype Xg2/Xg2 bears children with a man of genotype Xg1/Y, and they produce a son with Klinefelter syndrome of genotype Xg1/Xg2Y. Using proper genetic terminology, briefly explain how this individual was generated. In which parent and in which meiotic division did the mistake occur?
A boy with Klinefelter syndrome (47,XXY) is born to a motherwho is phenotypically normal and a father who has the X-linkedskin condition called anhidrotic ectodermal dysplasia. The mother’sskin is completely normal with no signs of the skin abnormality.In contrast, her son has patches of normal skin and patchesof abnormal skin. Question: Using the appropriate genetic terminology, describe themeiotic mistake that occurred. Be sure to indicate in whichdivision the mistake occurred.
Pedro and Karli have a baby girl Ella by in vitro fertilization. Ella does not resemble either one of her parents, so they suspect that the clinic made a mistake during the procedure and implanted the wrong embryo. At Ella’s first well-baby checkup they insist that she get her blood typed. Baby Ella is type A-positive. Pedro is A-negative and Karli is O-positive. Given this information answer the following questions. (a) What are Ella’s possible genotypes? (b) What are Pedro’s possible genotypes? (c) What are Karli’s possible genotypes? (d) Is it possible that Ella is Pedro and Karli’s daughter? (e) Explain your answer in (d). (f) If baby Ella needed a blood transfusion, could either of his parents serve as a blood donor? ______ If so, which one? ______________________________ (g) Explain your answer in (f). ________________________________________ ______________________________________________________________ Kara is B-positive and her father has A-negative blood. Kara marries Ryan,…
Pedro and Karli have a baby girl Ella by in vitro fertilization. Ella does not resemble either one of her parents, so they suspect that the clinic made a mistake during the procedure and implanted the wrong embryo. At Ella’s first well-baby checkup they insist that she get her blood typed. Baby Ella is type A-positive. Pedro is A-negative and Karli is O-positive. Given this information answer the following questions. (d) Is it possible that Ella is Pedro and Karli’s daughter? (e) Explain your answer in (d). (f) If baby Ella needed a blood transfusion, could either of his parents serve as a blood donor? ______ If so, which one? ______________________________ (g) Explain your answer in (f). ________________________________________ _______________________________________
Two mothers give birth to sons at the same time at a busy urban hospital. The son of mother 1 is afflicted with hemophilia. Neither parent has the disease. Mother 2 has a normal son, despite the fact that the father has hemophilia. Several years later, couple 1 sues the hospital, claiming that these two newborns were swapped in the nursery following their birth. As a genetic counselor, you are called to testify. What information can you provide the jury concerning the allegation?
The woman in Problem 24 has had two miscarriages. She has come to you, an established genetic counselor, with these questions: Is there a genetic explanation of her frequent miscarriages? Should she abandon her attempts to have a child of her own? If not, what is the chance that she could have a normal child? Provide an informed response to her concerns.
Figure 1-15 shows the family tree, or pedigree, for LouiseBenge (Individual VI-1) who suffers from the diseaseACDC because she has two mutant copies of the CD73gene. She has four siblings (VI-2, VI-3, VI-4, and VI-5)who have this disease for the same reason. Do all of the10 children of Louise and her siblings have the samenumber of mutant copies of the CD73 gene, or mightthis number be different for some of the 10 children?
Pedro and Karli have a baby girl Ella by in vitro fertilization. Ella does not resemble either one of her parents, so they suspect that the clinic made a mistake during the procedure and implanted the wrong embryo. At Ella’s first well-baby checkup they insist that she get her blood typed. Baby Ella is type A-positive. Pedro is A-negative and Karli is O-positive. Kara is B-positive and her father has A-negative blood. Kara marries Ryan, who is A-negative. Ryan’s father has O-positive blood. (d) What is Kara’s genotype? (e) What is Ryan’s genotype? (e)What are the phenotypic ratios of blood types (for both the ABO gene and Rh gene) that would be expected among their children? (Show your work in a Punnett square below!)
reference text Ph.D Fernando, Harvard Professor of Genetic Epidemiology, knows a thing or two about Twins. He must know as he is head of the Twin Research Department where he works with about 3,500 pairs of identical twins, researching the influence of a person's genes on everything from the probability of being obese, whether or not they have religious beliefs, and, how, do they fall into sentimental issues. Anyone who is a twin, or who has ever met a pair of identical twins, can attest to how remarkably similar they are to each other, even in the rare cases of adopted twins raised in separate homes.A recent article begins with an introduction to two middle-aged twin sisters called Susan and Polly, one of the pairs of twins in the study group of the Department of Research of Harvard. Although they were treated almost as a single person growing up, with cuts from identical hair and clothes, the twins began to diverge in their teens as they they gained the freedom to make their own…
A boy with Klinefelter syndrome (47,XXY) is born to a motherwho is phenotypically normal and a father who has the X-linkedskin condition called anhidrotic ectodermal dysplasia. The mother’sskin is completely normal with no signs of the skin abnormality.In contrast, her son has patches of normal skin and patchesof abnormal skin. Using the appropriate genetic terminology, explain theson’s skin phenotype.