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Article

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

9 Jun 2005

Abstract excerpt

The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is localized between the loci D4S166 and D4S3327, where a deletion seems to generate all the clinical manifestations of...

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PMID: 15948183
DOI: 10.1002/ajmg.a.30775

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Research trail→

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The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second casePMID 15948183Read ↗

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

Wolf-Hirschhorn syndrome: A case series from India.Semantic proximity Read ↗

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

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.Semantic proximity Read ↗

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.Semantic proximity Read ↗

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.Semantic proximity Read ↗

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.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 ↗

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

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

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

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

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