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.

Rodríguez, Laura

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. [electronic resource] - Gene Feb 2014 - 165-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1879-0038

10.1016/j.gene.2013.11.041 doi


Abnormalities, Multiple--diagnosis
Brain--pathology
Chromosome Banding
Chromosome Inversion
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 8
Comparative Genomic Hybridization
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Mutagenesis, Insertional
Phenotype
Tomography, X-Ray Computed
Translocation, Genetic
Trisomy