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]
Producer: 20160304Description: 346-50 p. digitalISSN:- 1878-0849
- 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
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Publication Type: Case Reports; Journal Article
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