Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion.
Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion.
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对具有多余新着丝粒 13q21 -->13q22 染色体和平衡相互缺失的母亲进行核型正常妊娠的产前诊断。
DOI：
10.1002/pd.559
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Warburton,PE
中科院分区：
文献类型：
--
作者：
Knegt,AC;Li,S;Engelen,JJM;Bijlsma,EK;Warburton,PE
一名有流产史的成年女性患者被发现携带稳定的多生染色体。该患者还携带染色体 13q21/22 的相互同心缺失。显微切割和反向荧光原位杂交FISH显示该多生染色体源自区域13q21→13q22。通过使用 FISH 检测不到可检测的 α 卫星 DNA，以及使用免疫荧光检测到着丝粒蛋白 CENP-C 和 CENP-A，证实了这条多余染色体上存在新着丝粒。端粒序列的缺失表明该标记是环状染色体 (r(13))。使用来自染色体区域 13q21 → 13q31 的有序 BAC 进行 FISH 可以精确定位 r(13) 染色体以及染色体带 13q21.32 → 13q22.2 的相应删除。 r(13) 内的 BAC 280J7 用作 FISH 探针，对妊娠 16 周的羊水细胞进行产前分析，结果显示胎儿的核型正常。该 r(13) 染色体代表了对 13 号染色体的首次描述，该染色体是源自间质缺失的较罕见的新着丝粒染色体。它代表了对表型正常女性进行产前诊断的第一个例子，该女性被确定携带新中心标记。父母中这种新中心标记/缺失核型的存在为受孕提供了独特的可能核型结果，并为遗传咨询带来了不寻常的挑战。版权所有 © 2003 约翰·威利父子有限公司
An adult female patient with a history of miscarriages was found to be carrying a stable supernumerary chromosome. The patient also carried a reciprocal paracentric deletion in chromosome 13q21/22. Microdissection and reverse fluorescencein situhybridization FISH revealed that this supernumerary chromosome was derived from region 13q21 → 13q22. The presence of a neocentromere on this supernumerary chromosome was confirmed by the absence of detectable alpha satellite DNA using FISH and the presence of centromere proteins CENP‐C and CENP‐A using immunofluorescence. The absence of telomere sequences suggests that the marker is a ring chromosome (r(13)). FISH using ordered BACs from the chromosome region 13q21 → 13q31 permitted the precise positioning of the r(13) chromosome and the corresponding deletion to chromosome bands 13q21.32 → 13q22.2. BAC 280J7 from within the r(13) was used as a FISH probe for the prenatal analysis of amniocytes at 16 weeks of gestation, which revealed a normal karyotype for the fetus. This r(13) chromosome represents the first description of chromosome 13 of the rarer class of neocentric chromosomes that are derived from interstitial deletions. It represents the first example of prenatal diagnosis in a phenotypically normal female that was ascertained to carry a neocentric marker. The presence of such a neocentric marker/deletion karyotype in a parent presents unique possible karyotypic outcomes for conceptions and unusual challenges for genetic counseling. Copyright © 2003 John Wiley & Sons, Ltd.