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

作者：Papoulidis Ioannis; Vetro Annalisa; Paspaliaris Vassilis^*; Ziegler Monika; Kreskowski Katharina; Daskalakis George; Papadopoulos Vasilios; Dagklis Themistoklis; Liehr Thomas; Thomaidis Loretta; Manolakos Emmanouil^*

来源：Current Genomics, 2018, 19(3): 240-246.

DOI：10.1174/1389101918666170715101110

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

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.

• 出版日期2018