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Chapter 12-2 Human Genetics

Terms

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trisomy
a chromsomal anomaly in which an individual has an extra chromosome in any of the chromosome pairs
genetic marker
a short section of DNA
Down syndrome
a disorder caused by an extra twenty-first chromosome and characterized by a number of physcial and mental abnormalities
pattern of inheritance
individuals whoes certain phenotypes are usually repeated in predictable patterns from one generation to the next
genetic disorder
a disease that has a genetic basis
hemophilla
a trait in which the blood lacks a protein that is essential for clotting
sex-influenced trait
a trait that is influenced by the presence of male or female sex chromosomes
amnicentesis
a procedure used in fetal diagnosis in which fetal cells are removed from the amniotic fluid
monosomy
a condition in a diploid cell in which one chromosome of one pair is missing as a result of nondisjunction during meiosis
multiple-allele trait
controlled by three or more alleles of the same gene that code for a single trait
trisomy-21
a human congenital disorder caused by trisomy of chromosome 21 due to the failure of the siter chromatids to seperate during mitosis or the failure of homologous chromosomes to seperate during meiosis
single-allele trait
a trait controlled by a single allele
genetic counseling
the process of informing a couple about their genetic makeup, which has the potential to affect their offspring
colorblindness
a recessive X-linked disorder in which an individual cannot distinguish between certain colors
choronic villi sampling
a procedure involving the analysis of the chorionic villi to diagnose fetal genotypes
polygenic trait
a trait controlled by multiple genes
phenylketonuria
a genetic disorder in which the body cannot metabolize phenylalanine
Huntington's Disease (HD)
a human genetic disorder caused by a dominate allele resulting in involuntary movements, mental deterioration, and eventual death
carrier
individuals who have one copy of a recessive autosomal allele
Duchenne muscular dystrophy
a form of muscular dystrophy that weakens and progressiviely destroys muscle tissue
pedigree
a diagram of the genetic history of an individual; can show how a trait is inherited over several generations
genetic screening
an examination of a person's genetic makeup

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