Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
Carolina Sanchez-Jimeno1, Ana Bustamante-Aragonés2, Fernando Infantes-Barbero1
1Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain.
Clinical Case Reports
|December 31, 2014
Abstract
Key Clinical Meassage:
Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.
Keywords:
16q Deletion CGH array17p duplicationMR/MCA syndromesPotocki syndromeTownes–Brocks syndromeinterstitial rearrangementsmental retardationMore Related Videos
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