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Duplication (17p) in a child with an isodicentric (17p) chromosome

✍ Scribed by Mascarello, J. T. ;Jones, M. C. ;Hoyme, H. E. ;Freebury, M. M. ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1983
Tongue: English
Weight: 349 KB
Volume: 14
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320140111

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✦ Synopsis

We present a child with multiple structural defects due to duplication of the short arm and a small portion of the long arm of chromosome 17. Three children with similar cytogenetic abnormalities have been reported previously. The karyotype contained an isodicentric chromosome derived from chromosome 17. A clue to the mechanism that produced the isochromosome was retained in the genome in the form of a part of the chromosome 17 long arm which was attached to the short arm of a chromosome 10.

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