涉及X染色体短臂的互惠染色体易位携带者的遗传咨询

Barbara Panasiuk , Ruta Ušinskiené , Ewa Kostyk , Alicja Rybałko , Beata Stasiewicz-Jarocka , Bogustawa Krzykwa , Barbara Pieńkowska-Grela , Vaidutis Kučinskas , Kyra Michalova , Alina T Midro
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引用次数: 17

摘要

遗传咨询的一个核心概念是估计出生时出现不平衡后代和其他不利妊娠结果(流产、死胎和早逝)的可能性。本文给出了断点为Xp的四种不同X-常染色体易位的单个携带者的发生概率估计,即t(X;5)(p22.2;q32)、t(X;6)(p11.2;q21)、t(X;7)(p22.2;p11.1)和t(X;22)(p22.1;p11.1)。采用GTG、RBG和FISH-wcp分析染色体易位断点位置。这些易位大多发生在表型正常、核型正常的妇女中,因为反复流产和/或畸形后代。在一个家庭中发现了一名非常罕见的纯Xp22.1→pter三体女孩,并对其临床情况进行了详细描述。有研究表明,断点位于Xp22(临界段)的X染色体易位不完全偏斜失活可能影响表型和风险值。因此,加入BrdU后,利用RBG技术分析复制带模式,进一步评估X的失活状态。在两个易位携带者t(X;5)(p22.2;q32)和t(X;7)(p22.2;p11.1)中,分别在5/100和10/180个分析细胞中观察到der(X)的晚期复制状态。在这两种情况下,断点位置都聚集在关键段Xp22.2。在另外两种情况下,一个断点位置在[t(X;22)(p22.1;p11.1)]内,另一个断点位置在关键区域[t(X;6)(p11.2;q21)]外,可以看到完全偏态失活。因此,我们认为断点位置的分布和完全偏斜失活都不影响观察到的t(X;A)携带者的表型。根据Stene和Stengel-Rutkowski理论计算了不平衡子代的发生概率,并应用了最新的经验数据。在研究组中,出生时不平衡子代的发生概率为2.1% ~ 17%。对于携带反向X; a易位的妇女在决定是否进一步计划生育时,关于个体数字大小的信息可能很重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X

A central concept in genetic counselling is the estimation of the probability of occurrence of unbalanced progeny at birth and other unfavourable outcomes of pregnancy (miscarriages, stillbirths and early death). The estimation of the occurrence probability for individual carriers of four different X-autosome translocations with breakpoints at Xp, namely t(X;5)(p22.2;q32), t(X;6)(p11.2;q21), t(X;7)(p22.2;p11.1), and t(X;22)(p22.1;p11.1), is presented. The breakpoint positions of chromosomal translocations were interpreted using GTG, RBG and FISH-wcp. Most of these translocations were detected in women with normal phenotype, karyotyped because of repeated miscarriages and/or malformed progeny. A girl with very rare pure trisomy Xp22.1→pter and a functional Xp disomy was ascertained in one family and her clinical picture has been described in details. It has been suggested that not fully skewed X chromosome inactivation of X-autosome translocation with breakpoint positions at Xp22 (critical segment) could influence the phenotype and risk value. Therefore, the X inactivation status was additionally evaluated by analysis of replication banding patterns using RBG technique after incorporation of BrdU. In two carriers of translocations: t(X;5)(p22.2;q32) and t(X;7)(p22.2;p11.1), late replication state of der(X) was observed in 5/100 and 10/180 analysed cells, respectively. In these both cases the breakpoint positions were clustered at the critical segment Xp22.2. In two other cases, one with the breakpoint position within [t(X;22)(p22.1;p11.1)] and one outside the critical region [t(X;6)(p11.2;q21)], fully skewed inactivation was seen. Therefore, we suggest that neither the distribution of the breakpoint positions nor fully skewed inactivation influenced the phenotype of observed t(X;A) carriers. The occurrence probabilities of the unbalanced progeny were calculated according to Stene and Stengel-Rutkowski along with application of updated available empirical data. In the studied group the values of occurrence probability for unbalanced offspring at birth ranged from 2.1% to 17%. Information on the magnitude of the individual figures may be important for women carrying a reciprocal X;A translocation when deciding upon further family planning.

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