Browse the research registry public · Customer Self-Service

Research registry ID

Date submitted

Project lead

Title

Growth phenotypes associated with mutations in chromosome 20

Community 1

Community 2

Community 3

Lay summary

After fertilisation, each individual inherits 23 pairs of chromosomes, with one chromosome originating from the mother and one from the father. Uniparental disomy (UPD) occurs when an individual inherits both chromosomes from a single parent. The phenotypic effect of UPD depends on the chromosome and the parent who contributed to the chromosome. 

A study reported novel UPD affecting the chromosome 20 and where both chromosomes are of maternal origin (UPD (20) mat) in eight individuals who had growth abnormality associated phenotypes including IUGR, short stature and growth difficulties. This UPD affects the whole chromosome 20. However, we can speculate that some parts of chromosome 20 are more causative than other parts of the chromosome. Our proposed research project is to identify the enriched defects in chromosome 20 and to estimate its prevalence in individuals with developmental disorders by contrast to individuals with non-developmental disorders

In this section