Background: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability and social skills, probably because of the X-chromosome inactivation phenomenon.

Case Report: A female patient with a 10Mb distal Xp deletion and an Xq duplication, showing mild intellectual disability, is described in this report. While the deletion arose from a maternal pericentric inversion, the duplication was directly transmitted from the mother who is phenotypically normal.

Conclusion: This report underlines the usefulness of molecular cytogenetic technics in postnatal diagnosis.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850512PMC
http://dx.doi.org/10.2174/1389202918666170725102220DOI Listing

Publication Analysis

Top Keywords

distal deletion
8
maternal pericentric
8
pericentric inversion
8
girl distal
4
deletion arising
4
arising maternal
4
inversion clinical
4
clinical data
4
data molecular
4
molecular characterization
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!