Wolf–Hirschhorn syndrome: Difference between revisions
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==Epidemiology== |
==Epidemiology== |
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The minimum birth incidence has been calculated as 1 in 50,000. |
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The minimum birth incidence has been calculated as 1 in 95,896.<ref>{{cite journal | vauthors = Shannon NL, Maltby EL, Rigby AS, Quarrell OW | title = An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality | journal = Journal of Medical Genetics | volume = 38 | issue = 10 | pages = 674–9 | date = October 2001 | pmid = 11584045 | doi = 10.1136/jmg.38.10.674 | pmc = 1734744 }}</ref> |
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==History== |
==History== |
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Wolf–Hirschhorn syndrome was first described in 1961 by Americans Herbert L. Cooper and [[Kurt Hirschhorn]]<ref name = "Hirschhorn_1961">{{cite journal | vauthors = Hirschhorn K, Cooper HL, Firschein IL | title = Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion | journal = Humangenetik | volume = 1 | issue = 5 | pages = 479–82 | year = 1961 | pmid = 5895684 | doi=10.1007/bf00279124}}</ref> and, thereafter, gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine ''Humangenetik''.<ref name = "Hirschhorn_1961" /><ref name="Wolf _1965">{{cite journal | vauthors = Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H | title = [Deficiency on the short arms of a chromosome No. 4] | language = German | journal = Humangenetik | volume = 1 | issue = 5 | pages = 397–413 | year = 1965 | pmid = 5868696 }}</ref> |
Wolf–Hirschhorn syndrome was first described in 1961 by Americans Herbert L. Cooper and [[Kurt Hirschhorn]]<ref name = "Hirschhorn_1961">{{cite journal | vauthors = Hirschhorn K, Cooper HL, Firschein IL | title = Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion | journal = Humangenetik | volume = 1 | issue = 5 | pages = 479–82 | year = 1961 | pmid = 5895684 | doi=10.1007/bf00279124}}</ref> and, thereafter, gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine ''Humangenetik''.<ref name = "Hirschhorn_1961" /><ref name="Wolf _1965">{{cite journal | vauthors = Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H | title = [Deficiency on the short arms of a chromosome No. 4] | language = German | journal = Humangenetik | volume = 1 | issue = 5 | pages = 397–413 | year = 1965 | pmid = 5868696 }}</ref> |
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Revision as of 11:05, 26 July 2020
| Wolf-Hirschhorn syndrome | |
|---|---|
| Other names | Chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks syndrome (PRDS) or Pitt syndrome,[1][2] |
 | |
| Young girl with Wolf-Hirschhorn syndrome | |
| Specialty | Medical genetics  |
Wolf–Hirschhorn syndrome (WHS), is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 (del(4p16.3)).[3] Features include a distinct craniofacial phenotype and intellectual disability.
Signs and symptoms
The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness.[4] Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.[5]
Genetics
Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSC1 and WHSC2.[6] About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial transmission, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. Severity of symptoms and expressed phenotype differ based on the amount of genetic material deleted. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescence in situ hybridization (FISH). Genetic testing and genetic counseling is offered to affected families.
Diagnosis
Diagnosis of WHS is confirmed by the detection of a deletion in the WHSCR. Chromosomal microarray and Cytogenetic analysis.D4S96 or D4Z1 chromosome band 4p16.3–specific probe (Wolf-Hirschhorn region, Vysis, Inc) is available for FISH study.
Epidemiology
The minimum birth incidence has been calculated as 1 in 50,000.
History
Wolf–Hirschhorn syndrome was first described in 1961 by Americans Herbert L. Cooper and Kurt Hirschhorn[7] and, thereafter, gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine Humangenetik.[7][8]
References
- ^ Online Mendelian Inheritance in Man (OMIM): Wolf-Hirschhorn syndrome - 194190
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 892, 894. ISBN 978-1-4160-2999-1.
{{cite book}}: Unknown parameter|name-list-format=ignored (|name-list-style=suggested) (help) - ^ 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 and Cell Genetics. 91 (1–4): 81–4. doi:10.1159/000056823. PMID 11173835.
- ^ Wieczorek D (September 2003). "Wolf-Hirschhorn syndrome" (PDF). Orphanet encyclopedia.
- ^ Hanley-Lopez J, Estabrooks LL, Stiehm R (July 1998). "Antibody deficiency in Wolf-Hirschhorn syndrome". The Journal of Pediatrics. 133 (1): 141–3. doi:10.1016/S0022-3476(98)70194-5. PMID 9672528.
- ^ Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A (April 2001). "First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation". American Journal of Medical Genetics. 99 (4): 338–42. doi:10.1002/ajmg.1203. PMID 11252005.
- ^ a b Hirschhorn K, Cooper HL, Firschein IL (1961). "Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion". Humangenetik. 1 (5): 479–82. doi:10.1007/bf00279124. PMID 5895684.
- ^ 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.
External links
- https://www.ncbi.nlm.nih.gov/books/NBK1183/
- Wolf-Hirschhorn syndrome on Genetics Home Reference