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A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

✍ Scribed by Balarin, Marly Aparecida Spadotto; Lopes, Vera L�cia Gil da Silva; Varella-Garcia, Marileila

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
19 KB
Volume
82
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990115)82:2<183::aid-ajmg16>3.0.co;2-h

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✦ Synopsis

We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical and molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2)(D17S29++,D17S379+). Alport syndrome is associated with mutations in the type IV alpha chain collagen gene, however, no known collagen-related gene is currently mapped to 17p11. Duplications involving 17p11.2 have been reported in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and in a few sporadic patients with mental retardation and minor anomalies, however, no significant clinical similarity was found among these cases and the propositus. Further studies may clarify the meaning of the association between Alport syndrome and duplications of DNA sequences mapped at 17p11.2.

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