9pモノソミー
WordNet
- chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/07/07 12:37:25」(JST)
[Wiki en表示]
| Monosomy 9p |
| Classification and external resources |
| OMIM |
158170 |
|
[edit on Wikidata]
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Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9. Symptoms include microgenitalia, mental retardation with microcephaly and dysmorphic features.
The location has recently been narrowed to 9p22.2-p23.[1]
Various clinical features have been associated with this disease including trigonocephaly, flattened occiput, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, and hypertonia.[2]
References
- ^ Kawara H, Yamamoto T, Harada N, et al. (February 2006). "Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23". Am. J. Med. Genet. A. 140 (4): 373–7. PMID 16419130. doi:10.1002/ajmg.a.31094.
- ^ "OMIM Entry - # 158170 - CHROMOSOME 9p DELETION SYNDROME". www.omim.org. Retrieved 2017-03-10.
External links
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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
|
| 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
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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/46,XX testicular disorders of sex development
- Ring chromosome (13; 14; 15; 20)
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Discovered by Omar Alfi.
UpToDate Contents
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English Journal
- Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings.
- Cakmak-Genc G1, Karakas-Celik S2, Dursun A2, Piskin İE3.
- Gene.Gene.2015 Sep 1;568(2):211-4. doi: 10.1016/j.gene.2015.05.022. Epub 2015 May 13.
- We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis wit
- PMID 25979671
- West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation.
- Erol I1, Saygı S1, Demir Ş2, Alehan F3, Sahin FI4.
- Journal of pediatric neurosciences.J Pediatr Neurosci.2015 Jan-Mar;10(1):25-7. doi: 10.4103/1817-1745.154324.
- West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient
- PMID 25878738
- Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
- Choucair N1, Mignon-Ravix C2, Cacciagli P3, Abou Ghoch J4, Fawaz A5, Mégarbané A6, Villard L2, Chouery E4.
- Molecular cytogenetics.Mol Cytogenet.2015 Jun 16;8:39. doi: 10.1186/s13039-015-0149-0. eCollection 2015.
- BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protein tyrosine phosphatase gene (PTPRD), located in the 9p24.1p23 region and encodi
- PMID 26082802
Japanese Journal
- 8番染色体モノソミー,9番染色体トリソミー合併患者の麻酔経験
- 大嶋 和之,上野 高広,倉茂 秀平,丹羽 ひかる,広瀬 雅之,溝上 真樹,高倉 康
- 岐阜歯科学会雑誌 32(2/3), 81-82, 2006-02-20
- 染色体検査により8番染色体モノソミー,9番染色体トリソミーと診断された患者の多数歯う蝕に対する集中歯科治療における全身麻酔を経験した.患者は,小下顎症を認めたが,精神発達遅滞のため,開口の確認や口蓋部の観察ができず,挿管困難の予測が難しかったが,セボフルランによる緩徐導入と,ベクロニウムによる筋弛緩により,喉頭鏡を用いて経鼻的気管内挿管が施行できた.挿管困難が予想される患者で,コミュニケーションが …
- NAID 110006155039
- 北村 旅人,今井 隆生,松尾 隆昌,阿部 厚,塚本 高久,栗田 賢一
- 日本口腔外科学会雑誌 46(8), 487-489, 2000-08-20
- … Among 90 cases of partial Monosomy of the short arm of chromosome 9 that have been described in the literature, only 4 cases have been reported in Japan. … Because of her peculiar facial appearance, including slanted eyes, flat nasal bridge, and prominent forehead, we conducted a chromosome analysis, which revealed a partial monosomy of the short arm of chromosome 9 (9p-syndrome). …
- NAID 10006382400
- The Chromosome 9p syndrome with microgenitalia
- Matsuishi Takeshi,Millar Anne
- 横浜国立大学教育人間科学部紀要. I, 教育科学 1, 157-162, 1998-11
- … We report an 18 year old male with monosomy 9p syndrome. … Clinical features included microgenetalia, mental retardation with microcephaly and dysmorphic features consistent with those of the known 9p syndrome. … On examination the SRY gene was found to be normal hence we support previous reports which suggest that there is a gene on 9p involved in early testes development. …
- NAID 110000035136
Related Links
- monosomy [mon″o-so´me] existence in a cell of only one instead of the normal diploid pair of a particular chromosome, seen in Turner's syndrome, monosomy 9p − disease, and various other conditions. adj., adj monoso´mic. ...
- 三角頭蓋, 小耳, 高位の弓形眉毛 (Swinkels MEM et al. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: delineation of the critical region for a consensus phenotype. Am. J. Med. Genet. 146A ...
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