Three cases with enlarged acrocentric p-arms and two cases with cryptic partial trisomies.

J Histochem Cytochem

Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany.

Published: March 2005

In three cases, banding analysis revealed a normal karyotype except for an enlarged short arm of one chromosome 13 or 15. To clarify whether this enlargement was due to a heteromorphism or to a cryptic chromosomal trisomy, so-called cenM-FISH probe sets containing a microdissection-derived probe specific for the acrocentric human p-arms were applied. The results enabled us to confirm in one case and to exclude in two cases that the enlargement on the suspect chromosome was due to a p-arm polymorphism. M-FISH and/or microdissection were used to resolve the nature of the rearrangements, i.e., partial trisomies 6 and 19.

Download full-text PDF

Source
http://dx.doi.org/10.1369/jhc.4B6407.2005DOI Listing

Publication Analysis

Top Keywords

three cases
8
partial trisomies
8
cases enlarged
4
enlarged acrocentric
4
acrocentric p-arms
4
p-arms cases
4
cases cryptic
4
cryptic partial
4
trisomies three
4
cases banding
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!