Insertional translocations: report of two new families and review of the literature.
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,q21.1)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.
Abuelo
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Genetic Counseling Center, Rhode Island Hospital, Department of Pediatrics, Providence 02902.
Barsel-Bowers
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G
Richardson
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A
D002878:Chromosomes, Human, Pair 1; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D002897:Chromosomes, Human, Pair 7; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic
D004251:DNA Transposable Elements