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Complex chromosomal rearrangement and multiple spontaneous abortions

โœ Scribed by J. L. Gorski; B. S. Emanuel; E. H. Zackai; M. Mennuti

Publisher
Springer
Year
1986
Tongue
English
Weight
94 KB
Volume
74
Category
Article
ISSN
0340-6717

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A complex balanced chromosomal rearrange
A complex balanced chromosomal rearrangement in repeated abortions
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A double balanced reciprocal translocation involving four chromosomes, t(1;19;6;14) (1p11; 19p11; 6q25; 14q21), was found in the phenotypically normal husband in a couple referred because of repeated abortions. Reciprocal translocations, t(6;14), had been transmitted by his mother, his father being

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Although rare, complex chromosomal rearrangements have been reported in the literature. The result is multiple congenital malformations in the offspring and recurrent spontaneous abortion. Chromosome 7 is usually involved, but in our patient chromosome 18 was involved.

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Data are presented confirming that placental chromosome abnormalities are more important than fetal chromosome abnormalities in determining fetal loss. Improved methodologies for studying chromosome abnormalities in spontaneous abortion (SAB) are presented that include results for 141 cases (gestati