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Current Genomics


ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

Case Studies

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization

Author(s): Ioannis Papoulidis , Annalisa Vetro, Vassilis Paspaliaris, Monika Ziegler , Katharina Kreskowski, George Daskalakis, Vasilios Papadopoulos, Themistoklis Dagklis , Thomas Liehr, Loretta Thomaidis and Emmanouil Manolakos*

Volume 19, Issue 3, 2018

Page: [240 - 246] Pages: 7

DOI: 10.2174/1389202918666170725102220

Price: $65


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.

Keywords: Xp deletion, Pericentric inversion, Array CGH, Classical cytogenetics, Genetic counseling, Xq duplication.

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