Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome: Chromosome 9 is commonly implicated in reciprocal translocations (rcp). Twenty-seven families segregating rcp involving chromosome 9 were selected with the aim of comparing the theoretical risk of Mental Retardation with Congenital Anomalies (MCA/MR) calculated according to Human Cytogenetics Forum with the observed reproductive follow-up. The 27 families include 157 subjects. The reproductive follow-up showed that the majority of mothers underwent full-term pregnancies (88/130), and that there were 37 spontaneous and five voluntary abortions. Eighty-one subjects were karyotyped: 18 had a normal karyotype, 50 carried an rcp, ten had an unbalanced rcp-related karyotype and three an abnormal rcp-unrelated karyotype. Of the 88 live-born individuals, seven had an abnormal rcp-related karyotype with partial chromosome 9 trisomy (four cases) or partial 9p monosomy (three cases), and 48 were rcp carriers, two of whom also presented additional anomalies. The evaluation of reproductive outcomes in the 27 families studied revealed good concordance between the Human Cytogenetics Forum predictions and the observed follow-up in relation to the most probable mode of unbalance at birth, and the higher risk of MCA/MR in rcp carriers with unbalanced live-borns in comparison with those generating healthy progeny

译文

:涉及9号染色体的家族相互平衡易位的携带者的生殖随访并与预期结果进行比较:9号染色体通常与相互易位(rcp)有关。选择了27个涉及9号染色体的rcp分离家庭,目的是将根据人类细胞遗传学论坛计算的先天性精神发育迟滞的理论风险与观察到的生殖随访进行比较。 27个家庭包括157个科目。生殖随访表明,大多数母亲都进行了足月妊娠(88/130),并且有37例自然流产和5例自愿流产。八十一名受试者进行了核型分析:18名受试者具有正常的核型,50名受试者具有rcp,十名受试者具有不平衡的rcp相关性核型,三名受试者具有异常的rcp无关性核型。在88个活产个体中,有7个具有与rcp相关的核型异常,其中9号染色体三体性(4例)或9p单体性染色体3个(3例),并且rcp携带者48个,其中两个还存在其他异常。对所研究的27个家庭的生殖结果进行的评估表明,人类细胞遗传学论坛的预测与观察到的关于出生时最可能的失衡方式以及在失衡的rcp携带者中MCA / MR的风险较高之间的随访之间具有良好的一致性与产生健康后代的活产婴儿相比

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