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Insertional translocations: Report of two new families and review of the literature

✍ Scribed by Abuelo, Dianne N. ;Barsel-Bowers, Gail ;Richardson, Anne ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 668 KB
Volume: 31
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320310209

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✦ Synopsis

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

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