Genetics and Genomics

A child exhibiting the typical morphological symptoms of Down Syndrome due to trisomy of chromosome 21.

(SOURCE: SHUTTERSTOCK).

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CHANGES IN ARRANGEMENT AND CHROMOSOME NUMBER

CONCEPT OUTLINE

Structural Chromosomal Aberrations

■ Deletions

■ Notch in Drosophila

■ Duplications

■ Bar eye in Drosophila

■ Gene Redundancy and Gene Amplification

■ Inversion

■ Inversion in Drosophila

■ Translocations

■ Robertsonian translocation

■ Multiple translocations system

Aneuploidy: Variations in the Number of Chromosomes

■ Monosomy

■ Partial Monosomy

■ Trisomy: autosomal aneuploids

■ Tetrasomy and nullisomy

Polyploidy

■ Euploidy

■ Haploidy or monoploidy ...