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Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization

✍ Scribed by Luis M. Franco; Jennifer Goldstein; Neil S. Prose; M. Angélica Selim; Carlos A. Tirado; Melissa M. Coale; Marie T. McDonald


Book ID
116581474
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
179 KB
Volume
55
Category
Article
ISSN
1097-6787

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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