WordNet
- eat hastily; "The teenager wolfed down the pizza" (同)wolf down
- any of various predatory carnivorous canine mammals of North America and Eurasia that usually hunt in packs
- a man who is aggressive in making amorous advances to women (同)woman chaser, skirt chaser, masher
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- German classical scholar who claimed that the Iliad and Odyssey were composed by several authors (1759-1824) (同)Friedrich August Wolf
- Austrian composer (1860-1903) (同)Hugo Wolf
PrepTutorEJDIC
- 〈C〉『オオカミ』 / 〈U〉オオカミの毛皮 / 〈C〉(オオカミのようにひどく)どん欲な人,残忍な人 / 〈C〉女たらし,色魔 / (オオカミのように)…‘を'がつがつ食う,むさぼり食う《+down+名,+名+down》
- (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）』「2013/12/31 19:06:58」(JST)
[Wiki en表示]
| Wolf–Hirschhorn syndrome |
| Classification and external resources |
| ICD-10 |
Q93.3 |
| ICD-9 |
758.3 |
| OMIM |
194190 |
| DiseasesDB |
32279 |
| eMedicine |
ped/2446 |
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)).
Contents
- 1 Signs and symptoms
- 2 Genetics
- 3 References
- 4 External links
Signs and symptoms[edit]
The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth and mental retardation, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness.[6] Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.[7]
Genetics[edit]
Deletion of short arm of the chromosome 4 in a patient with Wolf-Hirschhorn syndrome
Wolf–Hirschhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of WHSC1 and WHSC2. 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.
References[edit]
- ^ 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. 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.
- ^ 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.
External links[edit]
- 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
- Craig Richardson: A Life Worth Living, With Disabilities, by Rebecca Richardson, RN, BSN.
|
Pathology: chromosome abnormalities (Q90–Q99, 758)
|
|
| Autosomal |
| Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Warkany syndrome 2
- Cat eye syndrome
- Trisomy 16
|
|
| 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-
|
|
|
| X/Y linked |
| Monosomy |
|
|
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
|
|
|
| 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
|
|
| 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)
|
|
|
| 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)
|
|
|
| Other |
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome
- Ring chromosome (13; 14; 15; 20)
|
|
UpToDate Contents
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English Journal
- Pediatric diagnosis not made until adulthood: A case of Wolf-Hirschhorn syndrome.
- Coppola A, Chinthapalli K, Hammond P, Sander JW, Sisodiya SM.SourceDepartment of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK; Epilepsy Society, Chesham Lane, Chalfont St Peter, Bucks, UK.
- Gene.Gene.2012 Oct 11. pii: S0378-1119(12)01217-6. doi: 10.1016/j.gene.2012.09.108. [Epub ahead of print]
- Wolf-Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures. Epilepsy is a major medical complication du
- PMID 23064045
Japanese Journal
- Wolf-Hirschhorn症候群患児の麻酔経験
- Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome
- HANPRASERTPONG Tharangrut,HANAOKA Uiko,ZHANG Xia,MORI Nobuhiro,INUBASHIRI Eisuke,KANENISHI Kenji,YAMASHIRO Chizu,TANAKA Hirokazu,SHIOTA Atsuko,YANAGIHARA Toshihiro,HATA Toshiyuki
- Journal of medical ultrasonics : official journal of the Japan Society of Ultrasonics in Medicine 35(4), 197-199, 2008-12-15
- NAID 10025327672
- Wolf-Hirschhorn 症候群患者の医療福祉状況 : 家族会の調査
Related Links
- GRJ top ＞ 遺伝子疾患情報リスト Wolf- Hirschhorn （ ウォルフ・ヒルシュホーン）症候群 （Wolf- Hirschhorn Syndrome:症候群） [4p- Syndrome, Del(4p) Syndrome, Monosomy 4p，include :Pitt-Rogers-Danks Syndrome } GeneReview ...
- Wolf-Hirschhorn Syndrome comes in all shapes and sizes. Read here to see the most comprehensive description about Wolf-Hirschhorn Syndrome (4p-). ... To share your story, create your LOGIN and sign in once you receive your ...
Related Pictures
★リンクテーブル★
[★]
- 英
- Wolf-Hirschhorn syndrome
- 同
- ウォルフ・ヒルシュホーン症候群、Wolf-Hirschhorn症候群
- 関
- 4p欠失症候群
[★]
- 英
- Wolf-Hirschhorn syndrome
- 関
- ウォルフ・ヒルシュホーン症候群、ウォルフ・ハーシュホーン症候群
[★]
- 英
- Wolf-Hirschhorn syndrome
- 関
- Wolf-Hirschhorn症候群、ウォルフ・ハーシュホーン症候群
[★]
オオカミ
- 関
- Canis lupus、wolves
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