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Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement

✍ Scribed by López-Expósito, Isabel; Ballesta-Martinez, María Juliana; Bafalliu, Juan Antonio; Vera-Carbonell, Ascensión; Domingo-Jiménez, Rosario; López-González, Vanesa; Fernández, Asunción; Guillén-Navarro, Encarna


Book ID
122359509
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
503 KB
Volume
103
Category
Article
ISSN
0888-7543

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We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected prenatally at 22 weeks of gestation, when mild echographic indications were disclosed during a routine examination in a female with no family histor