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Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation

✍ Scribed by Morrison, P. J.; Smith, N. M.; Martin, K. E.; Young, I. D.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 203 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<50::aid-ajmg9>3.0.co;2-1

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✦ Synopsis

We report on a 3-year-old-girl with mosaic partial trisomy 17 due to an additional ring chromosome 17 in 13% of cells analysed. This was identified by fluorescence in situ hybridisation (FISH) using a whole chromosome 17 specific paint as well as probes specific for the Smith-Magenis and Miller-Dieker regions of chromosome 17p. This girl showed mild developmental delay with subtle facial and other minor abnormalities including single palmar creases, generalised joint laxity, and a scoliosis. Am.