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Ring chromosome 8 syndrome: Further characterization

✍ Scribed by Tonk, Vijay S.; Kukolich, Mary K.; Morgan, David; Khan, Ashraf; Jalal, Syed M.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 12 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000117)90:2<162::aid-ajmg14>3.0.co;2-#

No coin nor oath required. For personal study only.

✦ Synopsis

We describe two de novo cases of extra r(8) confirmed by fluorescent in situ hybridization (FISH). Based on these two and eight additional cases of extra r(8) confirmed by FISH, the phenotype is better documented. One of our patients had minor facial anomalies, near-normal growth, and neurological development. She had a ring in each cell analyzed. The second had minor craniofacial anomalies and growth and mental retardation. He had a small or double-sized ring in each cell. The phenotype of these 10 cases ranges from almost normal in an adult with 10% mosaicism to variable degrees of minor anomalies, growth retardation, and mental retardation overlapping the mosaic +8 syndrome.

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