A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.10459 | DOI Listing |
Publication Analysis
Top Keywords
marker chromosomes
12
supernumerary marker
8
critical region
8
chromosomes confirmation
4
confirmation critical
4
region resultant
4
resultant phenotype
4
phenotype critical
4
region exists
4
exists 5p13
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!