一名因母亲臂间倒位导致Xp远端10 Mb缺失的女孩：临床数据与分子特征分析
A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization.
作者信息
Papoulidis Ioannis, Vetro Annalisa, Paspaliaris Vassilis, Ziegler Monika, Kreskowski Katharina, Daskalakis George, Papadopoulos Vasilios, Dagklis Themistoklis, Liehr Thomas, Thomaidis Loretta, Manolakos Emmanouil
机构信息
Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
出版信息
Curr Genomics. 2018 Apr;19(3):240-246. doi: 10.2174/1389202918666170725102220.
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.
背景
X染色体短臂缺失在人群中的外显率较低，这给遗传咨询带来了挑战。考虑到智力和社交技能，这些缺失的女性携带者的表型比男性携带者更轻，这可能是由于X染色体失活现象。
病例报告
本报告描述了一名患有10Mb远端Xp缺失和Xq重复的女性患者，表现为轻度智力残疾。该缺失源于母亲的臂间倒位，而重复则直接由表型正常的母亲遗传而来。
结论
本报告强调了分子细胞遗传学技术在产后诊断中的实用性。
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