Chapter 30: Chromosomal Abnormalities Flashcards
The term omphalo refers to:
umbilical region
What is defined as a group of clinically observable findings that exist together and allow for classification?
syndrome
A cell having three copies of an individual chromosome is referred to as:
trisomy
A situation in which some cells have an abnormal number of chromosomes whereas others do not is defined as:
mosaic
A cell that has an abnormal number of whole chromosomes is referred to as:
aneuploid
Which of the following is a maternal serum test that is used to determine the gender, as well as detecting some chromosomal abnormalities?
a. Cell-free DNA
b. cordocentesis
c. amniocentesis
d. CVS
a
Normal diploid cells have:
46 chromosomes
A 38 year old pregnant woman presents to the sonography department for an obstetric sonogram with abnormal maternal serum screening. Her AFP and estriol are low, whereas her hCG is elevated. These laboratory findings are most consistent with:
Down syndrome
The triple screen usually includes:
AFP, estriol, and hCG
Another name for Patau syndrome is:
trisomy 13
Rounded head shape is referred to as:
brachycephaly
Theca lutein cysts would most likely be linked with a molar pregnancy and:
triploidy
With which of the following syndromes is brachycephaly associated most often?
a. Edwards syndrome
b. Patau syndrome
c. Down syndrome
d. Turner syndrome
c
Advanced maternal age is considered to be:
older than 35 years old
Which of the following is a sex chromosome anomaly?
a. Edwards syndrome
b. Trisomy 13
c. Down syndrome
d. 45, X
d
A molar pregnancy, omphalocele, and small, low-set ears are found most often with:
triploidy
With what procedure is placental tissue obtained?
CVS
The bending of the fifth digit toward the fourth digit is called:
clinodactyly