Uniparental disomy (UPD) occurs when both chromosomes of a pair or areas from one chromosome in any individual have been inherited from a single parent. Since chromosomal numbers remain the same, cytogenetic analysis will not detect them. Hence, UPD disorders were not described until recently since molecular analysis is required to show that the two chromosomes originated from the same parent. Read recently published literature regarding UPD, and answer the following questions: What are the mechanisms that lead to UPD? Give at least 3 examples of UPD disorders and their clinical consequences: UPD Disorder OMIM # Locus Type of UPD Phenotype (include images) 1 2 3
Uniparental disomy (UPD) occurs when both chromosomes of a pair or areas from one chromosome in any individual have been inherited from a single parent. Since chromosomal numbers remain the same, cytogenetic analysis will not detect them. Hence, UPD disorders were not described until recently since molecular analysis is required to show that the two chromosomes originated from the same parent. Read recently published literature regarding UPD, and answer the following questions: What are the mechanisms that lead to UPD? Give at least 3 examples of UPD disorders and their clinical consequences: UPD Disorder OMIM # Locus Type of UPD Phenotype (include images) 1 2 3
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Uniparental disomy (UPD) occurs when both chromosomes of a pair or areas from one chromosome in any individual have been inherited from a single parent. Since chromosomal numbers remain the same, cytogenetic analysis will not detect them. Hence, UPD disorders were not described until recently since molecular analysis is required to show that the two chromosomes originated from the same parent.
Read recently published literature regarding UPD, and answer the following questions:
What are the mechanisms that lead to UPD? |
||||
Give at least 3 examples of UPD disorders and their clinical consequences: |
||||
| UPD Disorder | OMIM # | Locus | Type of UPD | |
| 1 | ||||
| 2 | ||||
| 3 |
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