A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin.
Unidad de Genética, Escuela de Medicina y Ciencias de la Salud. Universidad del Rosario. Bogotá, Colombia.
Dora Janeth
DJ
Fonseca
Carlos Fernando
CF
Prada
Luz Miriam
LM
Siza
Diana
D
Angel
Yenny Milena
YM
Gomez
Carlos Martin
CM
Restrepo
Hannie
H
Douben
Fernando
F
Rivadeneira
Annelies
A
de Klein
Paul
P
Laissue
D001921:Brain / Q000473:pathology*; D002648:Child; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging