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Article

A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.

Clinical dysmorphology - 1 Oct 2012

Tüysüz Beyhan, van Bon Bregje W M, Alp Zeynep, Güzel Zeki, Veltman Joris A, de Vries Bert B A

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Share to Chromosome Duplication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22664659
DOI: 10.1097/MCD.0b013e3283554d15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.PMID 22664659Read ↗

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.Semantic proximity Read ↗

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.Semantic proximity Read ↗

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndromeSemantic proximity Read ↗

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.Semantic proximity Read ↗

A microduplication of CBP in a patient with mental retardation and a congenital heart defect.Semantic proximity Read ↗

A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence.Semantic proximity Read ↗

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoireSemantic proximity Read ↗

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.Semantic proximity Read ↗

Clinical course over five decades of a woman carrying 16p13.3 microduplication.Semantic proximity Read ↗

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.Semantic proximity Read ↗

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.Semantic proximity Read ↗

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