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Article

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

American journal of medical genetics. Part A - 15 Sept 2008

Marangi Giuseppe, Leuzzi Vincenzo, Orteschi Daniela, Grimaldi Maria E, Lecce Rosetta, Neri Giovanni, Zollino Marcella

Abstract excerpt

We report on a 16-year-old girl with a multiple congenital anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication of chromosome region 16p13.3 was detected by array-CGH. Mental retardation was moderate (IQ 45), with very limited speech. She had tall stature with relative microcephaly. Clinical manifestations included distinctive facial appearance with deep set eyes, narrow palpebral...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18688873
DOI: 10.1002/ajmg.a.32460

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.PMID 18688873Read ↗

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.Semantic proximity Read ↗

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

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.Semantic proximity Read ↗

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.Semantic proximity Read ↗

Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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

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

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Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)Semantic proximity Read ↗

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?Semantic proximity Read ↗

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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