Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact.

Hervé, B

Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact. [electronic resource] - European journal of medical genetics - 346-50 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2015.04.005 doi


Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 5--genetics
Chromosomes, Human, Pair 9--genetics
Craniofacial Abnormalities--diagnosis
Gene Deletion
Gene Duplication
Heart Defects, Congenital--diagnosis
Histone Methyltransferases
Histone-Lysine N-Methyltransferase--genetics
Humans
Intellectual Disability--diagnosis
Intracellular Signaling Peptides and Proteins--genetics
Male
Mosaicism
Nuclear Proteins--genetics
Phenotype