Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN:9781305251052
Author:Michael Cummings
Publisher:Michael Cummings
Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations
Section: Chapter Questions
Problem 24QP: A geneticist discovers that a girl with Down syndrome has a Robertsonian translocation involving...
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explain the symptoms of Robertsonian translocation?
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Step 1 Introduction
Robertsonian translocation is a type of translocational chromosomal aberration in which acrocentric chromosomes break at the centromere and long arm join to form one single chromosome. In human it occurs between 13, 14, 15, 21 and 22 chromosomes. Not all the translocation lead to genetic disorders.When long arm of chromosome 21 fuses with chromosome 14, it leads to a genetic disorder down syndrome. Also when chromosome 13 fuses with other chromosomes it leads to trisomy, known as patau syndrome.
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