Title: A woman affected with an X-linked recessive disorder: Post by: pippi713713 on Mar 1, 2018 A woman affected with an X-linked recessive disorder:
A. Has one X chromosome affected by the mutation B. Will transmit the disorder to all of her children C. Will transmit the disorder to all of her sons D. Will not transmit the mutation to any of her daughters Question 2 In creating your female patient's pedigree, you note that she and both of her sisters were affected by the same genetic disorder. Although neither of her parents had indications of the disorder, her paternal grandmother and her paternal grandmother's two sisters were affected by the same condition. This pattern suggests: A. Autosomal dominant disorder B. Chromosomal disorder C. Mitochondrial DNA disorder D. X-linked dominant disorder Question 3 Which of the following are found in an individual with aneuploidy? A. An abnormal number of chromosomes B. An X-linked disorder C. Select cells containing abnormal-appearing chromosomes D. An autosomal recessive disorder Question 4 A woman with an X-linked dominant disorder will: A. Not be affected by the disorder herself B. Transmit the disorder to 50 of her offspring (male or female) C. Not transmit the disorder to her daughters D. Transmit the disorder to only her daughters Question 5 With an autosomal recessive disorder, it is important that parents understand that if they both carry a mutation, the following are the risks to each of their offspring (each pregnancy): A. 50 chance that offspring will carry the disease B. 10 chance of offspring affected by disease C. 25 chance children will carry the disease D. 10 chance children will be disease free Question 6 In autosomal recessive disorders, carriers have: A. Two mutated genes; one from each parent that cause disease B. A mutation on a sex chromosome that causes a disease C. A single gene mutation that causes the disease D. One copy of a gene mutation but not the disease Question 7 In autosomal recessive (AR) disorders, individuals need: A. Only one mutated gene on the sex chromosomes to acquire the disease B. Only one mutated gene to acquire the disease C. Two mutated genes to acquire the disease D. Two mutated genes to become carriers Question 8 When analyzing the pedigree for autosomal dominant disorders, it is common to see: A. Several generations of affected members B. Many consanguineous relationships C. More members of the maternal lineage affected than paternal D. More members of the paternal lineage affected than maternal Title: A woman affected with an X-linked recessive disorder: Post by: elchapojr on Mar 1, 2018 An X-linked recessive disorder means that in a woman, both X chromosomes must have the mutation if she is to be affected. Because males have only one copy of the X chromosome, they will be affected if their X chromosome carries the mutation. A man with an X-linked dominant disorder will transmit the mutation to 100 of his daughters (they receive his X chromosome) and none of his sons (they receive his Y chromosome). The pedigree of a family with an X-linked dominant disorder would reveal all the daughters and none of the sons affected with the disorder if the father has an X-linked disorder. An individual with an abnormal number of chromosomes has a condition called aneuploidy, which is frequently associated with mental problems or physical problems or both (Jorde, Carey, & Bamshad 2010; Nussbaum et al. 2007). Everyone born with an X-linked dominant disorder will be affected with the disease. Transmission of the disorder to the next generation varies by gender, however. A woman will transmit the mutation to 50 of all her offspring (male or female). It is important that parents understand that if they both carry a mutation, the risk to each of their offspring (each pregnancy) is an independent event: 25 disease free, 25 affected, and 50 carrier. Individuals who have an AR disorder have two mutated genes, one on each allele of the chromosome. Parents of an affected person are called carriers because each parent carries one copy of the mutation on one chromosome and a normal gene on the other chromosome. Carriers typically are not affected by the disease. In pedigrees with an AR inheritance patterns, males and females will be equally affected because the gene mutation is on an autosome. In autosomal recessive (AR) disorders, the offspring inherits the condition by receiving one copy of the gene mutation from each of the parents. Autosomal recessive disorders must be inherited through both parents (Nussbaum et al. 2007). Individuals who have an AR disorder have two mutated genes, one on each locus of the chromosome. Parents of an affected person are called carriers because each carries one copy of the mutation on one chromosome and a normal gene on the other chromosome. Carriers typically are not affected by the disease. Pedigrees associated with autosomal dominant (AD) disorders typically reveal multiple affected family members with the disease or syndrome. When analyzing the pedigree for AD disorders or syndromes, it is common to see a vertical pattern denoting several generations of affected members. Title: A woman affected with an X-linked recessive disorder: Post by: pippi713713 on Mar 1, 2018 :-] I'm impressed
|