Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document

PDF) Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4 , DNASE1 , TRAP1 , and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

A representative G-banded partial karyotype of chromosomes 16 and 19

M M Al-Qattan's research works King Saud University, Riyadh (KKUH) and other places

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance, Molecular Cytogenetics

t(10;16)(q22;p13) KAT6B/CREBBP

M M Al-Qattan's research works King Saud University, Riyadh (KKUH) and other places

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

The t(11;16)(q23;p13) Translocation in Myelodysplastic Syndrome Fuses the MLL Gene to the CBP Gene - ScienceDirect

Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four‐generation family - Mohamed - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability, Molecular Cytogenetics

Genotype‐phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature - Fontes - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance, Molecular Cytogenetics