Exam 6: Cytogenetics - Karyotypes and Chromosome Aberrations

Changes in the number of copies of chromosomal DNA segments and the genes they contain are called ____________________.

Define aneuploidy and describe the sex chromosome aneuploidies involved in Turner syndrome,Klinefelter syndrome,and XYY syndrome; list characteristics of each disorder.

The long arm of a chromosome is called the ____________________ arm.

Early investigators associated the tendency to violent criminal behavior with the ____________________ karyotype,but there is no evidence of a direct link between the two.

Autism,Alzheimer disease,Parkinson's disease,and schizophrenia are all associated with ____.

Studies of sex chromosome aneuploidy reveal that ____ necessary for survival.

Regions at the ends of chromosomes that prevent chromosomes from sticking to each other are called ____.

One type of polyploidy is ____.

 Most triploid zygotes probably arise from ____.

Amniocentesis collects cells from the fluid surrounding the fetus in order to prepare a(n)____________________.

The risk of having a child with Down syndrome due to a chromosomal translocation is independent of maternal age.

Free fetal DNA (ffDNA)originates from the breakdown of fetal cells and their nuclei in the ____________________.

Explain how to determine if a nondisjunction occurred during meiosis I or meiosis II and what the genetic consequences are for the resulting fertilized gametes.

Polyploidy is characterized by ____.

Almost all chromosomally abnormal embryos and fetuses are ____________________ as pregnancy progresses.

-Describe normal embryo formation and two mechanisms of nondisjunction represented in the figure and identify the consequences of these chromosomal anomalies.

In a(n)____ translocation,two nonhomologous chromosomes exchange parts and no genetic information is gained or lost from the cell in the exchange.

There are ____________________ chromosomes in a human tetraploid cell.

Using fetal DNA from the mother's blood for prenatal testing is a noninvasive procedure.

The karyotype designation for a female with X chromosome trisomy is ____________________.