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Chromosomal rearrangements in three generations of a Jamaican family

 

作者: Patricia A. Martin,   Marigold J. Thorburn,   Elaine H. McNeil Smith-Read,  

 

期刊: Cytogenetic and Genome Research  (Karger Available online 1970)
卷期: Volume 9, issue 5  

页码: 360-368

 

ISSN:1424-8581

 

年代: 1970

 

DOI:10.1159/000130105

 

出版商: S. Karger AG

 

数据来源: Karger

 

摘要:

Chromosomal rearrangements are described in a three-generation family whose members were all normal but for the propositus, who had phenotypic abnormalities suggestive of Patau’s syndrome. The rearrangements appeared to involve chromosomes of the D and E groups in four members of the family, and in the mother and the abnormal propositus, who had identical karyotypes, there was also a questionable abnormality of a B chromosome. Autoradiographic studies indicated that chromosomes 13 and 17 may be involved in the translocation and that the B-group abnormality involved possibly a chromosome No. 5. Genetic-marker studies were noncontributory. The explanation favored for the rearrangement was an insertion type of exchange following three breaks in the D and E groups, and hence the abnormal propositus could be explained as an example of recombinational imbalanc

 

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