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

[ Vol. 19 , Issue. 3 ]

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*   Pages 240 - 246 ( 7 )

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.

Keywords:

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

Affiliation:

Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Department of Molecular Medicine, University of Pavia, Pavia, Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Department of Obstetrics & Gynecology, “Alexandra” Hospital, University of Athens, Athens, Department of Obstetrics & Gynecology, University of Patra, Patra, 3rd Obstetrics and Gynecology Clinic, Ippokrateion Hospital, Aristotle University of Thessaloniki, Thessaloniki, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Developmental Assessment Unit, 2nd Department of Pediatrics, P. & A. Kyriakou Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki

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