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Article

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

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

Zhang Han, Lu Xianglan, Beasley Julie, Mulvihill John J, Liu Ruizhi, Li Shibo, Lee Ji-Yun

Abstract excerpt

Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal...

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Gene Dosage

Share to Histone-Lysine N-Methyltransferase

Share to Histone Methyltransferases

Share to In Situ Hybridization, Fluorescence

Share to Intracellular Signaling Peptides and Proteins

Source

Identifiers

PMID: 21567906
DOI: 10.1002/ajmg.a.33769

Genes

NSD1

Provenance

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Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.PMID 21567906Read ↗

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

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

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

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

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.Semantic proximity Read ↗

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

A boy with Silver-Russell syndrome and Sotos syndrome.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 ↗

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

[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].Semantic proximity Read ↗

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