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 ty
β¦ LIBER β¦
Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)
β Scribed by Fady M. Mikhail; Dawn McIlvried; R. Lynn Holt; Ludwine Messiaen; Maria D. Descartes; Andrew J. Carroll
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 208 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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