TY  - GEN
AU  - Rodríguez,Laura
AU  - Bhatt,Samarth S
AU  - García-Castro,Mónica
AU  - Plasencia,Ana
AU  - Fernández-Toral,Joaquín
AU  - Abarca,Elena
AU  - de Bello Cioffi,Marcelo
AU  - Liehr,Thomas
TI  - A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion
SN  - 1879-0038
PY  - 2014///0311
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Brain
KW  - pathology
KW  - Chromosome Banding
KW  - Chromosome Inversion
KW  - Chromosomes, Human, Pair 3
KW  - Chromosomes, Human, Pair 8
KW  - Comparative Genomic Hybridization
KW  - Female
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Infant, Newborn
KW  - Mutagenesis, Insertional
KW  - Phenotype
KW  - Tomography, X-Ray Computed
KW  - Translocation, Genetic
KW  - Trisomy
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.gene.2013.11.041
ER  -