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7/24/15, 17:25Wolf–Hirschhorn syndrome - Wikipedia, the free encyclopedia
Page 1 of 3https://en.wikipedia.org/wiki/Wolf–Hirschhorn_syndrome
Wolf–Hirschhorn syndromeClassification and external resources
ICD-10 Q93.3(http://apps.who.int/classifications/icd10/browse/2015/en#/Q93.3)
ICD-9-CM 758.3 (http://www.icd9data.com/getICD9Code.ashx?icd9=758.3)
OMIM 194190 (http://omim.org/entry/194190)
DiseasesDB 32279 (http://www.diseasesdatabase.com/ddb32279.htm)
eMedicine ped/2446 (http://www.emedicine.com/ped/topic2446.htm)
Patient UK Wolf–Hirschhorn syndrome (http://patient.info/doctor/Wolf-Hirschhorn-Syndrome)
Wolf-hirschhorn
Wolf–Hirschhorn syndromeFrom Wikipedia, the free encyclopedia
Wolf–Hirschhorn syndrome (WHS),also known as chromosome deletionDillan 4p syndrome, Pitt-Rogers-Danks syndrome (PRDS) or Pittsyndrome,[1][2] was first described in1961 by Americans Herbert L.Cooper and Kurt Hirschhorn[3] and,thereafter, gained worldwide attentionby publications by the German UlrichWolf, and Hirschhorn and their co-workers, specifically their articles inthe German scientific magazineHumangenetik.[4][5] It is acharacteristic phenotype resultingfrom a partial deletion of chromosomal material of the short arm ofchromosome 4 (del(4p16.3)).[6]
Contents1 Signs and symptoms2 Genetics3 See also4 References5 External links
Signs and symptomsThe most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, shortphiltrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth retardation,intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristicsinclude hypospadias, colobomata of the iris, renal anomalies, and deafness.[7] Antibody deficiencies are alsocommon, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.[8]
Genetics
7/24/15, 17:25Wolf–Hirschhorn syndrome - Wikipedia, the free encyclopedia
Page 2 of 3https://en.wikipedia.org/wiki/Wolf–Hirschhorn_syndrome
Deletion of short armof the chromosome784 in a patient withWolf-Hirschhornsyndrome
Wikimedia Commons hasmedia related to Wolf–Hirschhorn syndrome.
Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of theshort arm of chromosome 4, particularly in the region of WHSC1(http://www.genenames.org/data/hgnc_data.php?match=WHSC1) and WHSC2(http://www.genenames.org/data/hgnc_data.php?match=WHSC2).[9] About 87% ofcases represent a de novo deletion, while about 13% are inherited from a parent with achromosome translocation. In the cases of familial translocation, there is a 2 to 1excess of maternal transmission. Of the de novo cases, 80% are paternally derived.Severity of symptoms and expressed phenotype differ based on the amount of geneticmaterial deleted. The critical region for determining the phenotype is at 4p16.3 andcan often be detected through genetic testing and fluorescence in situ hybridization(FISH). Genetic testing and genetic counseling is offered to affected families.
See alsoWolff-Parkinson-White syndrome
References1. Online 'Mendelian Inheritance in Man' (OMIM) Wolf-Hirschhorn syndrome -194190 (https://omim.org/entry/194190)2. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 892,
894. ISBN 1-4160-2999-0.3. Cooper H, Hirschhorn K (1961). "Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of
midline fusion". Mammalian Chrom Nwsl. (4): 14.4. Hirschhorn K, Cooper HL, Firschein IL (1965). "Deletion of short arms of chromosome 4-5 in a child with defects of
midline fusion". Humangenetik 1 (5): 479–82. PMID 5895684 (https://www.ncbi.nlm.nih.gov/pubmed/5895684).5. Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H (1965). "Deficiency on the short arms of a chromosome No. 4".
Humangenetik (in German) 1 (5): 397–413. PMID 5868696 (https://www.ncbi.nlm.nih.gov/pubmed/5868696).6. Dufke, A; Seidel, J; Schöning, M; Döbler-Neumann, M; Kelbova, C; Liehr, T; Beensen, V; Backsch, C; Klein-Vogler, U;
Enders, H (2000). "Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome.". Cytogenetics andcell genetics 91 (1-4): 81–4. PMID 11173835 (https://www.ncbi.nlm.nih.gov/pubmed/11173835).
7. Wieczorek D. Wolf-Hirschhorn syndrome. Orphanet encyclopedia. September 2003:http://www.orpha.net/data/patho/GB/uk-WHS.pdf
8. Hanley-Lopez J, Estabrooks LL, Stiehm R (July 1998). "Antibody deficiency in Wolf-Hirschhorn syndrome"(http://linkinghub.elsevier.com/retrieve/pii/S0022347698003163). J. Pediatr. 133 (1): 141–3. doi:10.1016/S0022-3476(98)70194-5 (https://dx.doi.org/10.1016%2FS0022-3476%2898%2970194-5). PMID 9672528(https://www.ncbi.nlm.nih.gov/pubmed/9672528).
9. Rauch, A; Schellmoser, S; Kraus, C; Dörr, HG; Trautmann, U; Altherr, MR; Pfeiffer, RA; Reis, A (1 April 2001). "Firstknown microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.".American journal of medical genetics 99 (4): 338–42. PMID 11252005(https://www.ncbi.nlm.nih.gov/pubmed/11252005).
External linksWolfHirschhorn.org (http://www.wolfhirschhorn.org)whs (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs) at NIH/UW GeneTestsWolf-Hirschhorn syndrome
7/24/15, 17:25Wolf–Hirschhorn syndrome - Wikipedia, the free encyclopedia
Page 3 of 3https://en.wikipedia.org/wiki/Wolf–Hirschhorn_syndrome
(http://www.orpha.net/data/patho/GB/uk-WHS.pdf) at www.orpha.net (Adobe .pdf format)4P- Support Group (http://www.4p-supportgroup.org)Wolf Hirschhorn Syndrome Trust for the UK and Ireland (http://www.whs4pminus.co.uk/)http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/http://www.ncbi.nlm.nih.gov/books/NBK1183/Wolf-Hirschhorn syndrome (http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome) on GeneticsHome ReferenceCraig Richardson: A Life Worth Living, With Disabilities, by Rebecca Richardson, RN, BSN.(http://www.amazon.com/CRAIG-RICHARDSON-Worth-Living-Disabilities/dp/1432774794/ref=tmm_pap_title_0?ie=UTF8&qid=1310729588&sr=1-1)
Retrieved from "https://en.wikipedia.org/w/index.php?title=Wolf–Hirschhorn_syndrome&oldid=671580883"
Categories: Autosomal monosomies and deletions Syndromes Genodermatoses
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