Small supernumerary marker chromosomes (sSMCs) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know the clinical manifestations associated with them, because such knowledge depends on the size, presence of euchromatic material, degree of mosaicism and/or uniparental disomy (UPD).A case report of a familial small supernumerary marker chromosome (sSMC) through a structural and a segregation study is reported.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309336PMC

Publication Analysis

Top Keywords

small supernumerary
12
supernumerary marker
12
case report
8
segregation study
8
marker chromosome
8
report meiotic
4
meiotic segregation
4
study small
4
chromosome small
4
marker chromosomes
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!