4p-症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/08/17 16:13:24」(JST)
[Wiki en表示]
| Wolf-Hirschhorn syndrome |
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Young girl with Wolf-Hirschhorn syndrome
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| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q93.3 |
| ICD-9-CM |
758.3 |
| OMIM |
194190 |
| DiseasesDB |
32279 |
| eMedicine |
ped/2446 |
| Patient UK |
Wolf–Hirschhorn syndrome |
| MeSH |
D054877 |
| GeneReviews |
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| Orphanet |
280 |
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[edit on Wikidata]
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Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt-Rogers-Danks syndrome (PRDS) or Pitt syndrome,[1][2] was first described in 1961 by Americans Herbert L. Cooper and Kurt Hirschhorn[3] 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.[4][5] It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4 (del(4p16.3)).[6]
Contents
- 1 Signs and symptoms
- 2 Epidemiology
- 3 Genetics
- 4 See also
- 5 References
- 6 External links
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.[7] Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.[8]
Epidemiology
The minimum birth incidence has been calculated as 1 in 95,896.[9]
Genetics
Deletion of short arm of the chromosome 4 in a patient with Wolf-Hirschhorn syndrome
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.[10] 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 translocation, 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.
See also
- Wolff-Parkinson-White syndrome
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 1-4160-2999-0.
- ^ 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.
- ^ 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. 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.
- ^ 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. Wolf-Hirschhorn syndrome. Orphanet encyclopedia. September 2003: http://www.orpha.net/data/patho/GB/uk-WHS.pdf
- ^ Hanley-Lopez J, Estabrooks LL, Stiehm R (July 1998). "Antibody deficiency in Wolf-Hirschhorn syndrome". J. Pediatr. 133 (1): 141–3. doi:10.1016/S0022-3476(98)70194-5. PMID 9672528.
- ^ http://jmg.bmj.com/content/38/10/674.full#ref-20
- ^ Rauch, A; Schellmoser, S; Kraus, C; Dörr, HG; Trautmann, U; Altherr, MR; Pfeiffer, RA; Reis, A (1 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.
External links
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Wikimedia Commons has media related to Wolf–Hirschhorn syndrome. |
- WolfHirschhorn.org
- whs at NIH/UW GeneTests
- Wolf-Hirschhorn syndrome at www.orpha.net (Adobe .pdf format)
- 4P- Support Group
- Wolf Hirschhorn Syndrome Trust for the UK and Ireland
- http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/
- http://www.ncbi.nlm.nih.gov/books/NBK1183/
- Wolf-Hirschhorn syndrome on Genetics Home Reference
- Craig Richardson: A Life Worth Living, With Disabilities, by Rebecca Richardson, RN, BSN.
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Chromosome abnormalities (Q90–Q99, 758)
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| Autosomal |
| Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Warkany syndrome 2
- Cat eye syndrome/Trisomy 22
- Trisomy 16
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| Monosomies/deletions |
- 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome
- Wolf–Hirschhorn syndrome
- Cri du chat/Chromosome 5q deletion syndrome
- Williams syndrome
- Jacobsen syndrome
- Miller–Dieker syndrome/Smith–Magenis syndrome
- DiGeorge syndrome
- 22q11.2 distal deletion syndrome
- 22q13 deletion syndrome
- genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)
- Distal 18q-/Proximal 18q-
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| X/Y linked |
| Monosomy |
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Trisomy/tetrasomy,
other karyotypes/mosaics |
- Klinefelter syndrome (47,XXY)
- 48,XXYY
- 48,XXXY
- 49,XXXYY
- 49,XXXXY
- Triple X syndrome (47,XXX)
- 48,XXXX
- 49,XXXXX
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| Translocations |
| Leukemia/lymphoma |
| Lymphoid |
- Burkitt's lymphoma t(8 MYC;14 IGH)
- Follicular lymphoma t(14 IGH;18 BCL2)
- Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
- Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
- Acute lymphoblastic leukemia
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| Myeloid |
- Philadelphia chromosome t(9 ABL; 22 BCR)
- Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
- Acute promyelocytic leukemia t(15 PML,17 RARA)
- Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
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| Other |
- Ewing's sarcoma t(11 FLI1; 22 EWS)
- Synovial sarcoma t(x SYT;18 SSX)
- Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
- Myxoid liposarcoma t(12 DDIT3; 16 FUS)
- Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
- Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
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| Other |
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome
- Ring chromosome (13; 14; 15; 20)
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UpToDate Contents
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English Journal
- Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next generation sequencing.
- Zhu X1, Li J1, Ru T1, Wang Y2, Xu Y1, Yang Y1, Wu X1, Cram DS3, Hu Y1.
- Prenatal diagnosis.Prenat Diagn.2016 Feb 2. doi: 10.1002/pd.4782. [Epub ahead of print]
- OBJECTIVE: To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart defect (CHD) using chromosomal microarray analysis (CMA) and validate next generation sequencing (NGS) as an alternative diagnostic method.METHODS: Chromosomal aneuploidi
- PMID 26833920
- Transition state for the NSD2-catalyzed methylation of histone H3 lysine 36.
- Poulin MB1, Schneck JL2, Matico RE2, McDevitt PJ2, Huddleston MJ2, Hou W2, Johnson NW3, Thrall SH2, Meek TD2, Schramm VL4.
- Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2016 Feb 2;113(5):1197-201. doi: 10.1073/pnas.1521036113. Epub 2016 Jan 19.
- Nuclear receptor SET domain containing protein 2 (NSD2) catalyzes the methylation of histone H3 lysine 36 (H3K36). It is a determinant in Wolf-Hirschhorn syndrome and is overexpressed in human multiple myeloma. Despite the relevance of NSD2 to cancer, there are no potent, selective inhibitors of thi
- PMID 26787850
- c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
- Safarpour Lima B1, Ghaedi H2, Daftarian N3, Ahmadieh H3, Jamshidi J4, Khorrami M5, Noroozi R2, Sohrabifar N2, Assarzadegan F1, Hesami O1, Taghavi S2, Ahmadifard A2, Atakhorrami M2, Rahimi-Aliabadi S2, Shahmohammadibeni N6, Alehabib E2, Andarva M2, Darvish H7, Emamalizadeh B8.
- European journal of medical genetics.Eur J Med Genet.2016 Feb;59(2):65-9. doi: 10.1016/j.ejmg.2016.01.001. Epub 2016 Jan 7.
- Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromoso
- PMID 26773575
Japanese Journal
- Wolf-Hirschhorn 症候群患者の医療福祉状況 : 家族会の調査
- 口蓋裂を伴った Wolf-Hirschhorn (4p-) 症候群の1例
- 症例 Wolf-Hirschhorn syndrome(4p-症候群)の超低出生体重児例
Related Links
- Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and ...
- 4p- Syndrome 番 号 6 疾病名 4p-症候群 診断手引き、医療意見書等のダウンロードはこちら 患者数 5万出生に1人，おそらく1000人以下と推定 概要 4番染色体短腕に位置する遺伝子群の欠失により引き起こされる疾患であり、重度精神 ...
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