We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320270105 | DOI Listing |
Publication Analysis
Top Keywords
duplication 3p21----3pter
4
3p21----3pter cyclopia
4
cyclopia report
4
report patient
4
patient interchromosomal
4
interchromosomal duplication
4
duplication 3p21
4
3p21 3pter
4
3pter arose
4
arose novo
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!