“Balanced” karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents
✍ Scribed by Wenger, Sharon L. ;Steele, Mark W. ;Boone, Leslie Y. ;Lenkey, Sharen G. ;Cummins, James H. ;Chen, Xiao-Qing
- Book ID
- 102703501
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 542 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We report an unusual case of a familial complex chromosome rearrangement (CCR), ascertained through prenatal diagnosis. The fetus carried an apparently balanced CCR with a recombinant 3‐segment chromosome derived from two paternal reciprocal translocations involving both homologs of chr
We studied the pedigrees of 14 families segregating a reciprocal translocation with one breakpoint in chromosome 17p13 and the other in the distal region of another autosome. All 14 were ascertained on the basis of an affected index case: 13 had Miller-Dieker syndrome (MDS) and one had dup(17p). In