存在结构染色体重排的隐匿性镶嵌现象：复发性流产和受累子代的罕见病因？
Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?
机构信息
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm, Sweden.
出版信息
Fertil Steril. 2011 Feb;95(2):806-8. doi: 10.1016/j.fertnstert.2010.09.022. Epub 2010 Oct 16.
We found maternal mosaicism for an unbalanced chromosome rearrangement in a woman with recurrent chromosome rearrangements in the offspring. Hidden mosaicism may be a previously underestimated explanation for recurrent miscarriages and/or affected offspring, and preimplantation genetic diagnosis can be used to verify germinal mosaicism, to evaluate the recurrence risk, and to provide a possibility to achieve a normal pregnancy.
我们在一位反复出现染色体异常的后代的女性中发现了不平衡染色体重排的母体镶嵌现象。潜在的镶嵌现象可能是反复流产和/或受影响后代的一个以前被低估的解释，而胚胎植入前遗传学诊断可用于验证生殖细胞镶嵌现象，评估复发风险，并提供实现正常妊娠的可能性。
Zotero 插件