TY  - GEN
AU  - Hervé,B
AU  - Roume,J
AU  - Cognard,S
AU  - Fauvert,D
AU  - Molina-Gomes,D
AU  - Vialard,F
TI  - Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact
SN  - 1878-0849
PY  - 2016///0304
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 5
KW  - genetics
KW  - Chromosomes, Human, Pair 9
KW  - Craniofacial Abnormalities
KW  - diagnosis
KW  - Gene Deletion
KW  - Gene Duplication
KW  - Heart Defects, Congenital
KW  - Histone Methyltransferases
KW  - Histone-Lysine N-Methyltransferase
KW  - Humans
KW  - Intellectual Disability
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Mosaicism
KW  - Nuclear Proteins
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2015.04.005
ER  -