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Article

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

American journal of medical genetics. Part A - 1 Aug 2014

Novara Francesca, Stanzial Franco, Rossi Elena, Benedicenti Francesco, Inzana Francesca, Di Gregorio Eleonora, Brusco Alfredo, Graakjaer Jesper, Fagerberg Christina, Belligni Elga, Silengo Margherita, Zuffardi Orsetta, Ciccone Roberto

Abstract excerpt

NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35 microduplication encompassing NSD1 gene has been reported so far in 27 cases presenting with delayed bone age, microcephaly,...

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Share to Chromosome Deletion
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 5

Share to Comparative Genomic Hybridization

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Share to In Situ Hybridization, Fluorescence

Share to Segmental Duplications, Genomic

Source

Identifiers

PMID: 24819041
DOI: 10.1002/ajmg.a.36591

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.PMID 24819041Read ↗

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.Semantic proximity Read ↗

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.Semantic proximity Read ↗

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