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

Overview

Journal Curr Genomics

Publisher Bentham Science Publishers

Date 2018 Apr 3

PMID 29606911

Citations 3

Authors

Ioannis Papoulidis

Annalisa Vetro

Vassilis Paspaliaris

Monika Ziegler

Katharina Kreskowski

George Daskalakis

Vasilios Papadopoulos

Themistoklis Dagklis

Thomas Liehr

Loretta Thomaidis

Emmanouil Manolakos

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations.

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