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 Biology (MindTap Course List)
11th Edition
ISBN:9781305112100
Author:Cecie Starr, Beverly McMillan
Publisher:Cecie Starr, Beverly McMillan
Chapter20: Chromosomes And Human Genetics
Section: Chapter Questions
Problem 2CT: Human sex chromosomes are XX for females and XY for males. a. With respect to an X-linked gene, how...
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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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