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Characterization by microarray and meiotic segregation study of a der(lO)t(10;18) in a patient with infertility and normal phenotype

Characterization by microarray and meiotic segregation study of a der(lO)t(10;18) in a patient with infertility and normal phenotype

作     者:Stephan Kemeny Florence Brugnon Eleonore Eymard-Pierre Carole Goumy Laurent Janny Andrei Tchirkov Christine Francannet Philippe Vago Celine Pebrel-Richard 

作者机构:Department of Medical Cytogenetic Univ Clermont 1 CHU EstaingClermont-Ferrand France EA 4677 ERTICa Univ Clermont 1Clermont-Ferrand France. 

出 版 物:《Asian Journal of Andrology》 (亚洲男性学杂志(英文版))

年 卷 期:2017年第19卷第1期

页      面:135-137页

核心收录:

学科分类:10[医学] 

主  题:balanced chromosomal rearrangements 

摘      要:Dear Editor, Carriers of balanced chromosomal rearrangements, including reciprocal, robertsonian translocations, and inversions, have all genetic information conserved. Nevertheless, because of the possibility of defect in chromosome segregation during gametogenesis, carriers of balanced rearrangements have an increased risk of spontaneous abortion and/ or a chromosomally unbalanced child with intellectual deficiency or multiple congenital malformations.

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