AI Article Synopsis
- Monosomy 18p syndrome involves the deletion of a segment on chromosome 18 and is a classic example of autosomal terminal deletions.
- This deletion can occur due to various genetic events, including new deletions, parental genetic mishaps, or specific chromosome configurations like ring chromosome 18.
- The case mentioned is a unique form of monosomy 18 caused by a whole-arm translocation between chromosomes 13 and 18, noted in the literature only three times before.
Article Abstract
Monosomy 18p syndrome is one of the prototypical examples of autosomal terminal deletions. This deletion can be the consequence of de novo deletions, malsegregation of a balanced parental translocation, cryptic subtelomeric deletions or ring chromosome 18. The present case is a rare cytogenetic variant of monosomy 18 as a consequence of whole-arm translocation between chromosomes 13 and 18 which has been reported only three times previously.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
rare cytogenetic
8
cytogenetic variant
8
variant monosomy
8
monosomy 18p
8
18p syndrome
8
consequence whole-arm
8
whole-arm translocation
8
translocation chromosomes
8
syndrome consequence
4
chromosomes monosomy
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!