2 pts Question 7 of 20 What is a proband? O a person who is found to be carrying a recessive mutation during a heterozygote screening program O a person who undergoes newborn screening for a genetic condition that can be treated if detected early O the karyotype of a fetus obtained through amniocentesis O a woman who becomes pregnant and requests genetic counseling O an affected person in a pedigree who brings the family to the attention of the medical community
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Sri K.
Match each statement with the best answer from the following list: Drag the terms on the left to the appropriate blanks on the right to complete the sentences. Not all terms will be used. The probability that the son of a woman with an autosomal recessive condition is a heterozygous carrier (given no additional information) is . The probability that the healthy brother of a woman with an autosomal recessive condition is a heterozygous carrier is . The is the Mendelian risk that a person is a heterozygous carrier of a recessive condition. It is the same as the frequency of carriers in the population. A(n) is a person who, based on family history, must be a heterozygous carrier of a recessive mutant allele. The is the person receiving genetic counseling.
Suman K.
GROUP A 1. Mr. and Ms. J have consulted a genetic counselor. Ms. J is 8 weeks pregnant, and cystic fibrosis runs in both of their families. Cystic fibrosis is a disease in which an individual may carry the disease allele but not have cystic fibrosis. A term to describe this type of trait is 2. First, the genetic counselor prepared a diagram summarizing the incidence of cystic fibrosis in the two families and the relationships between family members. This type of diagram is called a(n) 3. Mr. and Ms. J were then screened for the presence of the cystic fibrosis allele. It was determined that both Mr. and Ms. J have the allele even though they do not have cystic fibrosis. For the cystic fibrosis trait, they are both considered to be 4. Ms. J wanted to know if her baby would have cystic fibrosis. Cells were taken from the hairlike projections of the membrane that surrounds the embryo. This technique is called 5. The fetus was shown to carry one normal allele and one cystic fibrosis allele. The fact that the alleles are different means that they can be described as 6. As part of the prenatal screening, the chromosomes were obtained from cells in metaphase and photographed for analysis. This form of evaluation is called a(n) 7. The analysis revealed the presence of two XX chromosomes. The gender of the baby is therefore GROUP B 1. Mr. and Ms. B have a child with three copies of chromosome 21. The child has a chromosomal abnormality known as 2. This abnormality, like any change in DNA, is known as a(n) 3. Chromosome 21 is one of 22 pairs of chromosomes known as 4. The remainder of the child's chromosomes are normal. The total number of chromosomes in the child's cells is 5. The chromosome abnormality arose during the production of gametes. The form of cell division that occurs exclusively in germ cell precursors is called 6. The family knew in advance about their baby's chromosome abnormality because of prenatal screening and testing. The first indication was an abnormal accumulation of fluid at the back of the fetus's neck. This test, which uses ultrasound, is known as the
Marisa A.
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