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Article

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.

American journal of medical genetics. Part A - 1 Oct 2011

Kasnauskiene Jurate, Cimbalistiene Loreta, Ciuladaite Zivile, Preiksaitiene Egle, Kučinskienė Zita Aušrelė, Hettinger Joe A, Sismani Carolina, Patsalis Philippos C, Kučinskas Vaidutis

Abstract excerpt

We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication. The...

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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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Source

Identifiers

PMID: 21998857
DOI: 10.1002/ajmg.a.34179

Genes

NSD1

Provenance

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Related research

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Research trail→

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De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.PMID 21998857Read ↗

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.Semantic proximity Read ↗

5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.Semantic proximity Read ↗

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.Semantic proximity Read ↗

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.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 ↗

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Semantic proximity Read ↗

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 ↗

[Mixed clinical phenotype of deletion and duplication of the Sotos syndrome region: 5q35.2-q35.3 microdeletion detected by CGH array].Semantic proximity Read ↗

A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.Semantic proximity Read ↗

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.Semantic proximity Read ↗

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Semantic proximity Read ↗

Two cases of Sotos syndrome with novel mutations of the NSD1 gene.Semantic proximity Read ↗

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