Insertional translocations: report of two new families and review of the literature.

作者: Dianne N. Abuelo , Gail Barsel-Bowers , Anne Richardson , John M. Opitz , James F. Reynolds

DOI: 10.1002/AJMG.1320310209

关键词:

摘要: We describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. second family, proposita congenital malformations, multiple spontaneous abortions also occurred. The father had an inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may caused by translocations and in fact only clinical manifestation this unusual type chromosome rearrangement.

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