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Article

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation

14 Aug 2007

Abstract excerpt

Wolf-Hirschhorn syndrome (WHS) is characterized by growth delay, developmental delay, hypotonia, seizures, feeding difficulties, and characteristic facial features. Deletion of either of two critical regions (WHSCR and WHSCR-2) within chromosome band 4p16.3 has been proposed as necessary for the minimal clinical manifestations of WHS and controversy remains regarding their designation. We describe two patients...

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PMID: 17696124
DOI: 10.1002/ajmg.a.31900

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Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designationPMID 17696124Read ↗

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.Semantic proximity Read ↗

A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.Semantic proximity Read ↗

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.Semantic proximity Read ↗

A Familial Chromosome 4p16.3 Terminal Microdeletion That Does Not Cause Wolf-Hirschhorn (4p-) syndromeSemantic proximity Read ↗

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.Semantic proximity Read ↗

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.Semantic proximity Read ↗

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.Semantic proximity Read ↗

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.Semantic proximity Read ↗

109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.Semantic proximity Read ↗

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second caseSemantic proximity Read ↗

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.Semantic proximity Read ↗

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