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Two cases of familial paracentric inversion in man associated with sex chromosome anomaly

✍ Scribed by Nina Canki; B. Dutrillaux

Publisher
Springer
Year
1979
Tongue
English
Weight
485 KB
Volume
47
Category
Article
ISSN
0340-6717

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✦ Synopsis

A paracentric inversion of chromosome 5 was detected after RHG banding in a subject affected by Klinefelter's syndrome. The inversion was also observed in the patient's mother, and was confirmed by QFQ- and RBA-banding techniques. A second paracentric inversion affecting chromsome 7 was detected in a woman with Turner's syndrome. The same structural anomaly was found in her father and her half-brother. The possible relationship between sex chromosome nondisjunction and paracentric inversion is discussed. Furthermore, the inversion of chromosome 7 reproduces exactly the chromosome 7 of the gorilla, which is presumed to be ancestral to the human 7. This therefore appears to be the first reported case of reverse chromosomal mutation.

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