Reproduction in a woman with low percentage t(21q21q) mosaicism.
نویسندگان
چکیده
The birth of a child is described with Down syndrome followed by the conception of a fetus bearing the t(21q21q) chromosome in 100% of their cells in a women mosiac for the translocation in less than 10% of 2 of her examined tissues and in none of the cells in her peripheral blood. Various hypotheses for explaining the above findings are discussed. The importance of examining as many parental tissues as possible for the detection of low percentage mosiacism is stressed.
منابع مشابه
Parental mosaicism in de novo translocation (21q21q) Down's syndrome.
Parental mosaicism for t(21q21q) has been found in six out of 11 families in which recurrence of a de novo 2lq2lq translocation Down's syndrome was observed. 1-3 Therefore, Hall' proposed that in the parents of children with de novo 21q21q Down's syndrome the analysis of additional cells and also skin fibroblasts studies should be considered for the detection of cryptic mosaicism. Support for t...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 14 3 شماره
صفحات -
تاریخ انتشار 1977