Lecture 3

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15 Terms

1

Karyotype

A technique to arrest cells in metaphase, stain, and visualize whole chromosomes and haploid genomes under a microscope, with a resolution of 10^8 to 10^9 base pairs.

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2

Fluorescence in situ hybridization (FISH)

A technique useful for analyzing submicroscopic regions using a probe, with a resolution of 10^4 to 10^5 base pairs.

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3

Microarray

A tool that can represent an entire genome by hybridizing patient and reference DNA, indicating chromosomal gain or loss through color, but does not provide information on change location or arrangement.

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4

Whole Genome Analysis

Provides information about aneuploidy, duplications, deletions, single base pair changes, translocations, and inversions; not useful for identifying mutations in a single gene due to interpretation difficulty; offers the highest resolution.

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5

Aneuploidy

Errors in chromosome number usually resulting from meiotic nondisjunction, leading to conditions like trisomy or monosomy, which can cause spontaneous abortion and developmental abnormalities.

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6

Balanced rearrangements

Do not change relative gene dosage; includes many inversions and translocations.

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7

Unbalanced rearrangements

Too many or too few copies of some genes; most deleterious.

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8

Robertsonian translocation

The most common structural chromosome abnormality in humans, occurring in 1/1000 live births, involving 2 acrocentric chromosomes; carriers typically have a normal phenotype but may experience a high rate of miscarriages, difficulty conceiving, or stillbirths.

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9

Balanced rearrangement offspring

Can lead to the production of aneuploid gametes due to improper alignment during meiosis, forming a quadrivalent; they have a chance to create normal offspring but a higher chance of producing unbalanced gametes, leading to abortion.

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10

Chromosome abnormalities

Often alter relative gene dosage, occur in 1% of live births, 2% of pregnancies in women over 35, and cause 50% of spontaneous abortions in women.

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11

Interstitial deletion

A deletion in the middle of a chromosome.

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12

Terminal deletion

A deletion of the end of a chromosome.

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13

Isochromosome

When the arms of the chromosome are mirror images of each other.

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14

Paracentric Inversion

An inversion in a chromosome where the centromere does not lie within the inverted segment.

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15

Pericentric Inversion

An inversion in a chromosome where the centromere lies within the inverted segment.

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