Types of chromosomal aberrations-deletion, duplication,inverstion etc Most chromosome anomalies occur as an accident in the egg or sperm, and are therefore not inherited. The anomaly is present in every cell of the body.Some anomalies, however, can happen after conception, resulting in mosaicism (where some cells have the anomaly and some do not). Chromosome anomalies can be inherited from a parent or be "de novo". This is why chromosome studies are often performed on parents when a child is found to have an anomaly. What are 4 types of chromosome structural changes? What are 4 types of chromosome structural changes? Changes in chromosome include deletions, duplications, inversions, and translocations. Deletion occurs when an end of a chromosome breaks off. Duplication is the presence of a chromosome segment more than once in the same chromosome. What are examples of chromosomal mutation or aberration? Examples of chromosomal disorders Edward's syndrome or trisomy 18. Patau syndrome or trisomy 13. Cri du chat syndrome or 5p minus syndrome (partial deletion of short arm of chromosome 5) Wolf-Hirschhorn syndrome or deletion 4p syndrome. What diseases are caused by chromosomal abnormalities? Examples of chromosomal disorders Down's syndrome or trisomy 21. Edward's syndrome or trisomy 18. Patau syndrome or trisomy 13. Cri du chat syndrome or 5p minus syndrome (partial deletion of short arm of chromosome 5) Wolf-Hirschhorn syndrome or deletion 4p syndrome. Jacobsen syndrome or 11q deletion disorder.

1. Lesson: Structural Chromosomal Abrreations
By
Assist. Professor. Kailas Kumbhar
M.sc. Microbiology

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Content

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Structural Aberrations in Chromosomes

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Deletions

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Cri-Du-Chat Syndrome

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Duplication

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Types of Duplication

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Translocations

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Inversions

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Rings

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Isochromosome
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