Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)
- PMID: 11183188
- PMCID: PMC1757157
- DOI: 10.1136/jmg.37.10.798
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)
Comment in
-
Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.J Med Genet. 2001 Jun;38(6):E21. doi: 10.1136/jmg.38.6.e21. J Med Genet. 2001. PMID: 11389168 Free PMC article. No abstract available.
Similar articles
-
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343
-
Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families.J Med Genet. 2000 Jun;37(6):449-51. doi: 10.1136/jmg.37.6.449. J Med Genet. 2000. PMID: 10928853 Free PMC article. No abstract available.
-
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.Eur J Hum Genet. 2004 Oct;12(10):797-804. doi: 10.1038/sj.ejhg.5201203. Eur J Hum Genet. 2004. PMID: 15241479
-
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Am J Med Genet C Semin Med Genet. 2008. PMID: 18932124 Review.
-
Terminal deletion of the long arm of chromosome 4 in a mother and two sons.Clin Genet. 1996 Dec;50(6):538-40. doi: 10.1111/j.1399-0004.1996.tb02733.x. Clin Genet. 1996. PMID: 9147894 Review.
Cited by
-
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.Case Rep Genet. 2012;2012:878796. doi: 10.1155/2012/878796. Epub 2012 Nov 22. Case Rep Genet. 2012. PMID: 23227376 Free PMC article.
-
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.Am J Hum Genet. 2002 Aug;71(2):276-85. doi: 10.1086/341610. Epub 2002 Jun 10. Am J Hum Genet. 2002. PMID: 12058347 Free PMC article.
-
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn Syndrome.Genes (Basel). 2025 Jul 12;16(7):820. doi: 10.3390/genes16070820. Genes (Basel). 2025. PMID: 40725476 Free PMC article.
-
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.Mol Syndromol. 2025 Feb;16(1):11-28. doi: 10.1159/000540454. Epub 2024 Aug 28. Mol Syndromol. 2025. PMID: 39911168 Free PMC article.
-
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources