Exam 5: Chromosomal and Mitochondrial Inheritance and Disorders

Why is Down syndrome the most common trisomy disorder seen among live born infants?

A male patient is tall and has some gynecomastia along with a low sperm count.During infertility testing,he was found to have a 47,XXY karyotype.Which disorder is consistent with these findings?

What would be the expected consequence to two daughter cells after mitosis if the ability to produce mitochondria was lost?

Which feature of a 15q deletion is present in both Angelman syndrome and Prader-Willi syndrome?

Which clinical feature in a newborn baby girl suggests the possibility of Turner syndrome?

Why does an embryo with a balanced translocation have the same chance for normal development that an embryo with a normal karyotype has?

How is a Robertsonian translocation different from a reciprocal translocation?

What is the risk for a woman who had a retinoblastoma in early childhood as a result of a partial deletion on one number 13 chromosome to have a child who also develops the disorder?

Which statement regarding partial chromosomal deletions or duplications is true?

What is the risk for a man who has Down syndrome to produce a child with Down syndrome with a woman who has a normal karyotype?

Which type of problems result from mutations in mitochondrial DNA (mtDNA)?

Which process can cause a person with an XY genotype to have a female phenotype?

Which factor has the greatest influence on the expression of a genetic disorder such as Prader-Willi syndrome or Angelman syndrome through the process of genomic imprinting?

Which clinical feature is a common finding for infants with trisomy 21,trisomy 18,and trisomy 13?

Which reproductive consequence is possible for a man who has a 13;15 Robertsonian translocation when his wife has a normal karyotype?

Which cancer type has an increased incidence among children with WAGR syndrome?

What factor most strongly influences the development of the paramesonephric tissue into female sex organs?

What is the best explanation of a child having the physical phenotype of Down syndrome but having a totally normal karyotype on chromosomal analysis of blood?

A man and his sister are both affected with a mitochondrial disorder.Because the sister has two children who also have the disorder,the man is concerned about the possibility of also having children with the disorder.What is the estimated risk for each pregnancy of this man producing a child with the same mitochondrial disorder that he has if his wife does not have a mitochondrial disorder?

Which health screening activity is most important for girls and women with Turner syndrome?