Flashcards for Human Chromosomal Abnormalities
Topics 1-3:  Overview, Detection, and Common Abnormalities
(12 cards)

Select the "Next Card" button to see a card. Select it again to view the answer.
"Delete Card" allows you to eliminate a card from the stack during this session.
Copyright © 2004-2012 by Dennis O'Neil. All rights reserved.

The percentage risk of a birth defect for a human pregnancy that goes to full term even when the mother is young and healthy.

about 2-3%

The number of chromosomal abnormalities that are now identifiable by sampling embryonic or fetal cells within the uterus of a mother. (Note: This question is not asking about the number of genetic disorders of all types.)

80+

The gender of babies that are at the highest risk for X-linked genetic disorders.

male

The number of known human genetic disorders.

5,000+

A diagnostic procedure for pregnant women to determine whether or not their fetuses have gross chromosomal anomalies. It involves sampling the liquid immediately surrounding a fetus within the amnion. This fluid is usually extracted through the mother's abdominal and uterine walls with a hypodermic needle.

amniocentesis

The fluid surrounding a fetus inside the amnion in its mother’s uterus. It mostly consists of fetal urine, but also contains some fetal skin cells.

amniotic fluid

A diagnostic procedure for pregnant women to determine whether or not their fetuses have gross chromosomal anomalies. It involves collecting a small sample of chorion cells for karyotyping. The biopsy usually is done by inserting a small flexible plastic tube through the vagina and the cervix of the uterus to draw out a sample of chorion tissue.

chorionic villi sampling (or biopsy)

A routine diagnostic procedure for pregnant women used to determine whether or not their fetuses have gross chromosomal anomalies. For this procedure, blood is drawn from a pregnant woman in order to determine the amount of certain proteins that have leaked into her system from her unborn child.

alpha-feto protein sampling

The general term for a chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24 in humans). Down syndrome is most often the result of this kind of error.

aneuploidy

The general term for a chromosomal abnormality in which there are extra complete multiples of chromosome sets (e.g., 23 + 23 + 23 in humans).

Polyploidy

A genetic pattern in which an individual has two distinct cell groupings--one with normal cells and another with a genetic problem. For instance, some people with Down syndrome produce both normal somatic cells and cells with an extra chromosome 21.

genetic mosaicism or mosaic pattern

The process of removing a tissue sample from a living organism for diagnostic examination (e.g., chorionic villi sampling).

biopsy