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Origin of 46,XY/46,XY,r(19) mosaicism

✍ Scribed by Yung, Jar-Fee ;Sobel, Daniel B. ;Hoo, Joe J.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 342 KB
Volume: 36
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320360404

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✦ Synopsis

We report on a case of 46,XY/46,XY,r(19) mosaicism. The patient shows minimal clinical abnormality and the terminal deletions prerequisite for the ring formation are not microscopically discernible. The origin of the mosaicism is discussed. Firstly, the mosaicism may represent chimerism with a prezygotic origin of the ring chromosome; secondly, the ring chromosome could have arisen postzygotically; and thirdly, the ring could have been of a prezygotic origin with the apparently normal cells actually containing reopened rings. The consequences of these hypothesis on genetic counselling are discussed.

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