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Procedure for removing amniotic fluid surrounding the developing fetus in order to test the fluid or cells within the fluid.


Any chromosome other than the sex chromosomes.

Barr body

Dark-staining body in the nuclei of female mammals that contains a condensed, inactive X chromosome.


Heterozygous individual who has no apparent abnormality but can pass on an allele for a recessively inherited genetic disorder.

chorionic villus sampling (CVS)

Prenatal test in which a sample of chorionic villi cells is removed for diagnostic purposes.

chromosomal mutation

Variation in regard to the normal number of chromosomes inherited or in regard to the normal sequence of alleles on a chromosome.

color blindness

Deficiency in one or more of the three kinds of cones responsible for color vision.


Change in chromosome structure in which the end of a chromosome breaks off, or two simultaneous breaks lead to the loss of an internal segment.

Duchenne muscular dystrophy

Chronic progressive disease affecting the shoulder and pelvic girdles, commencing in early childhood; transmitted as an X-linked trait, and affected individuals, predominantly males, rarely survive to maturity.


Change in chromosome structure in which a particular segment is present more than once.

Fragile X syndrome

Genetic disease that results in a constellation of abnormalities due to a trinucleotide repeat expansion.


X-linked, recessive genetic disease in which one or more clotting factors are missing.


Change in chromosome structure in which a segment of a chromosome is turned around 180°.


Chromosomes arranged by pairs according to their size, shape, and general appearance in mitotic metaphase.

linkage group

Alleles of different genes that are located on the same chromosome and tend to be inherited together.


One less chromosome than usual.


Failure of homologous chromosomes or daughter chromosomes to separate during meiosis I and meiosis II, respectively.

sex chromosome

Chromosome that determines the sex of an individual; in humans, females have two X chromosomes, and males have an X and a Y chromosome.


Allele that occurs on the sex chromosomes but may control a trait having nothing to do with the sexual characteristics of an individual.


Group of symptoms that appear together and tend to indicate the presence of a particular disorder.


Movement of a chromosomal segment from one chromosome to another, nonhomologous chromosome, leading to abnormalities.


One more chromosome than usual.


Allele that is located on an X chromosome but may control a trait that has nothing to do with the sex characteristics of an individual.

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