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16 Cards in this Set

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Chart showing the pattern of inheritance of a trait through generations in a family.

Pedigree

Repeated section of a chromosome

Duplication

Structural rearrangement of a chromosome in which part of the DNA becomes oriented in the reverse direction.

Inversion

May not affect carrier's health but may affect fertility.

Structural change of a chromosome in which a broken piece gets reattached in the wrong location.

Translocation

Segment of DNA that can move spontaneously within or between chromosomes.

Transposable Element

Having too many or too few copies of a particular chromosome.

Aneuploid

Failure of sister chromatids or homologous chromosomes to separate during nuclear division.

Nondisjunction

Having three or more of each type of chromosome characteristic of the species.

Polyploid

A trait associated with a dominant allele on an autosome. Appears in people of both homozygous dominant and heterozygous dominant. Tends to appear in every generation.

Autosomal dominant inheritance pattern.

Example: Achondroplasia, Huntington's disease, Hutchinson-Gilford Progeria.

A recessive allele on an autosome. Expressed only in homozygous people. traits tend to skip generations.

Autosomal Recessive Inheritance pattern

Recessive allele on an autosome. Only persons who are homozygous for an allele have the associated trait. The trait tends to skip generations.

Autosomal Recessive Inheritance

Ex: Tay-Sachs disease and Albinism

A recessive allele on the X-chromosome. Appears more often in men. Can transmit allele to daughters but not sons.

X-Linked Recessive Pattern

Ex: Red-Green color blindness, Duchesne Muscular Dystrophy, Hemophilia A.

Failure of sister chromatids or homologous chromosomes to separate during nuclear division.

Nondisjunction

Individuals who carry an extra sex chromosome. Problems are subtle and the cause may never be diagnosed.

Trisomy

Example: (XXX, XXY) XYY male may be taller than most.

Sex chomosome abnormality in females in which they inherit an X chromosome and no corresponding Y or X chromosome. Female offspring who inherit this trait can be well proportioned but short, have underdeveloped ovaries and do not possess sufficient sex hormones to become sexually mature.

Turner Syndrome

XO genotype 1/2500 chance

See chromosome abnormality in males in which they make more estrogen than normal males, tend to be tall and overweight.

Klinefelter Syndrome

XXY genotype common in 1/500 males.