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Sindrom delesi 22q11: Perbedaan antara revisi

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eMedicineSubj = med |
eMedicineTopic = 567 |
|name=Sindrom delesi 22q11|image=DiGeorge syndrome1.jpg|caption=Seorang pasien dengan sindrom DiGeorge, menunjukkan penampilan wajah yang khas, dengan hidung berbentuk tabung dan mulut berbentuk ikan mas}}
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'''Sindrom delesi 22q11''' adalah kelainan yang disebabkan oleh [[delesi (genetika)|delesi]] bagian kecil pada [[kromosom 22 (manusia)|kromosom 22]]. Delesi terjadterjadi di bagian tengah [[kromosom]] yang disebut bagian q11.2. Insidens penyakit ini diperkirakan terjadi pada setiap 4000 kelahiran.
 
Penyakit ini mempengaruhimemengaruhi beberapa bagian tubuh. tanda-tanda khas dan gejalanya seperti defek pada [[jantung]] sejak lahir, gangguan belajar, infeksi karena gangguan pada [[sistem kekebalan]], dan memiliki tampakan wajah yang berbeda. Penderita juga dapat memiliki gangguan pada [[ginjal]], kadar [[kalsium]] yang rendah dalam [[darah]], kesulitan makan, kelainan otoimun seperti [[artritis reumatoid]], dan memiliki risiko yang lebih tinggi terhadap gangguan jiwa.<ref name="Bebbane_2006_psychosis">Debbane M, Glaser B, David MK, Feinstein C, Eliez S (2006) ''Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications.'' Schizophr Res 2006, 84(2-
3):187-193. PMID 16545541 </ref> Delesi kecil pada daerah 22q11 memiliki hubungan peningkatan risiko [[skizofrenia]],<ref name="Horowitz_2005_SCHZ">Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R (2003) ''The schizophrenia phenotype in 22q11 deletion syndrome.'' Am J Psychiatry 2003, 160(9):1580-1586. PMID 12944331</ref> dan sering terdeteksi pada pasien skizofrenia.<ref name="Horowitz_2005_survey_SCHZ">Horowitz A, Shifman S, Rivlin N, Pisante A, Darvasi A (2005) ''A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients.'' Schizophr Res 2005, 73(2-3):263-267. PMID 15653270 </ref> Oleh karena tanda dan gejala sindrom delesi 22q11 sangat luas dan bermacam-macam, dilakukan pengelompokan untuk menggambarkan kondisi yang berbeda, seperti '''sindrom Shprintzen''' atau '''sindrom velo-kardio-fasial''', '''sindrom DiGeorge''', '''Sindrom kehilangan pendengaran dan kraniofasial''', [[hipoplasia]] [[timus]], kelainan kejiwaan, dan hipokalsemia atau suatu keadaadan kadar [[kalsium]] rendah di darah. Kini, terdapat istilah '''sindrom CATCH-22'''. CATCH-22 merupakan singkatan dari '''C''' = ''cardiac defect'' atau defek jantung, '''A''' = ''abnormal face'' atau wajah tak normal, '''T''' = ''thymic hypoplsia'' atau hipoplasia timus, '''C''' = ''cleft palate'' atau mulut sumbing, '''H''' = ''hypocalcemia'' atau hipokalsemia, dan '''22''' = delesi kecil pada kromosom 22.
 
== Gejala ==
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== Penyebab ==
Sindrom DiGeorge disebabkan oleh delesi heterozigot bagian lengan panjang (q) dari kromosom 22, wilayah 1, pita 1, sub-pita 2 (22q11.2). Sekitar 80-90% pasien memiliki delesi 3 Mb dan 8% memiliki delesi 1,5Mb.<ref name="Packham 2003">{{cite journal|date=April 2003|title=T-box genes in human disorders|journal=Hum. Mol. Genet.|volume=12 Spec No 1|issue=|pages=R37–44|doi=10.1093/hmg/ddg077|pmid=12668595|vauthors=Packham EA, Brook JD}}</ref>
Penyabab sindrom ini karena delesi pada lengan panjang kromosom 22.
 
== Terapi ==
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== Diagnosa ==
Penyakit ini didiagnosa dengan menggunakan teknik pemeriksaan genetika seperti FISH atau ''fluorescence in situ hybridization'' dengan ''[[DNA probe]]'' dari daerah kromosom DiGeorge.
 
== Referensi ==
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* {{cite journal | author=Baldini A | title=DiGeorge syndrome: an update | journal=Curr Opin Cardiol | year=2004 | pages=201-4 | volume=19 | issue=3 }} PMID 15096950
* {{cite journal | author=Maynard TM, Haskell GT, Lieberman JA, LaMantia AS | title=22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome | journal=Int J Dev Neurosci | year=2002 | pages=407-19 | volume=20 | issue=3-5 }} PMID 12175881
* {{cite journal | author=McDermid HE, Morrow BE | title=Genomic disorders on 22q11 | journal=Am J Hum Genet | year=2002 | pages=1077-88 | volume=70 | issue=5 }} PMID 11925570 ''[http://www.pubmedcentral.gov/articlerender.fcgi?tool=pubmed&pubmedid=11925570 Full text]{{Pranala mati|date=Mei 2021 |bot=InternetArchiveBot |fix-attempted=yes }}''
* {{cite journal | author=Perez E, Sullivan KE | title=Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes) | journal=Curr Opin Pediatr | year=2002 | pages=678-83 | volume=14 | issue=6 }} PMID 12436034
* {{cite journal | author=Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R | title=Role of TBX1 in human del22q11.2 syndrome | journal=Lancet | year=2003 | pages=1366-73 | volume=362 | issue=9393 }} PMID 14585638
* {{cite journal | author=Yamagishi H, Srivastava D | title=Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome | journal=[http://trendsdaily.net Trends] Mol Med | year=2003 | pages=383-9 | volume=9 | issue=9 }} PMID 13129704
* D’Antonio, Linda L.; Scherer, Nancy; Miller, Laura L.; Kalbfleisch, John H.; Bartley, James A. 2000. “Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS and Children with Phenotyhpic Overlap without VFCS.” Cleft PalateCraniofacial Journal. September, 39:5, 455-67.▼
 
▲*D’Antonio, Linda L.; Scherer, Nancy; Miller, Laura L.; Kalbfleisch, John H.; Bartley, James A. 2000. “Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS and Children with Phenotyhpic Overlap without VFCS.” Cleft PalateCraniofacial Journal. September, 39:5, 455-67.
 
* Eliez, D.; Feinstein, C.; Palacio-Espasa, F; Spira, A.;Lacriox, M.;Pont, C.;Luthi, F.; Robert-Tissot, C.; Cramer, B.; Schorderet, D. F.; Antonarakis, S. E. 2000. “Young Children with Velo-Cardio-Facial syndrome (Catch-22). Psychological and language phenotypes.” European Child & Adolescent Psychiatry. 9: 109-1 14.
 
* Gerdes, Marsha; Solot, Cynthia; Wang, Paul; McDonald, McGinn, and Sackai, Elaine H. 2001. “Taking advantage of early diagnosis: Preschool children with the 22q 11.2 deletion.” Genetics in Medicine. January/February, 3:1, 40-4.
 
* Perez, Elena; Sulivan, Kathleen E. 2002. “Chromosome 22q1 1.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).” Current Options in Pediatrics. 14:678-83.
 
* Persson, Christina; Niklasson, Lena; Oskarsdottir, Solveig; Johansson, Susanne; Jonsson, Radi; Soderpalm, Ewa. 2006. “Language skills in 5-8-year-old children with 22q1 1 deletion syndrome.” International Journal of Language & Communication Disorders. 41:3, 3 13-33.
 
* Robin, Nathaniel H.; Shprintzen, Robert J.;2005. “Defining the Clinical Spectrum Spectrum of Deletion 22q11.2”. The Journal of Pediatrics. 147:90-96
 
* Scherer, Nancy J; D’Antonio, Linda L.; Kalbfleisch, John H. 1999. “Early Speech and Language Development in Children With Velocardiofacial Syndrome.” American Journal of Medical Genetics (Neuropsychiatric Genetics). 88: 714-23.
 
* Scherer, Nancy J.; D’Antonio, Linda L.; Rodgers, Jennifer R. 2001. “Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome.” Genetics in Medicine. January/February, 3:1, 72-8.
 
* Shprintzen, Robert J.; Higgins, Anne Marie; Antshel, Kevin; Fremont, Wanda; Roizen, Nancy; Kates, Wendy. 2005. “Velo-cardio-facial syndrome.” Current Opinion in Pediatrics. 17:725-730.
 
* Solot, Cynthia B. and Knightly, Carol; Handler, Steven D.; Gerdes, Marsha; McDonald-McGinn, Donna M.; Moss, Edward; Wang, Paul; Cohen, Marilyn; Randall, Peter and Larossa, Don; Driscoll, Deborah A. 2000. “Communication Disorders in the 22Q11 .2 Microdeletion Syndrome.” Journal of Communication disorders. 33: 187-204.
 
== Pranala luar ==
* {{en}} [https://web.archive.org/web/20061024024742/http://timesonline.typepad.com/india_knight/ India Knight's blog about children with special needs. Her daughter suffers from 22q11.2 Deletion Syndrome]
* {{en}} [http://www.vcfsef.org/index.html VCFS Educational Foundation, Inc.] {{Webarchive|url=https://web.archive.org/web/20091207021328/http://www.vcfsef.org/index.html |date=2009-12-07 }}
* {{en}} [http://www.chop.edu/consumer/jsp/division/generic.jsp?id=74634 Children's Hospital of Philadelphia] {{Webarchive|url=https://web.archive.org/web/20060918050010/https://www.chop.edu/consumer/jsp/division/generic.jsp?id=74634 |date=2006-09-18 }}
* {{en}} [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.150 NIH]
* {{en}} [http://www.emedicine.com/med/topic567.htm eMedicine]
* {{en}} [http://www.maxappeal.org.uk MaxAppeal]
* {{en}} [http://www.22q.org International 22q11.2 Deletion Syndrome Foundation]
* {{en}} [http://www.vcfs.com.ar/index.html Asoc. Familias 22q11 DS/VCFS] {{Webarchive|url=https://web.archive.org/web/20070206220411/http://www.vcfs.com.ar/index.html |date=2007-02-06 }}
{{Kelainan kromosom}}
{{Authority control}}
 
[[Kategori:Kelainan genetik]]
[[Kategori:Sindrom|22q11]]
[[Kategori:Kelainan sistem kekebalan]]
 
[[ar:متلازمة دي جورج]]
[[de:Mikrodeletionsyndrom 22q11]]
[[en:22q11.2 deletion syndrome]]
[[es:Síndrome de Di George]]
[[fi:Catch 22]]
[[fr:Microdélétion 22q11]]
[[it:Sindrome da delezione 22q11]]
[[nl:Syndroom van DiGeorge]]
[[pl:Zespół delecji 22q11.2]]
[[ru:Синдром Ди Джоржи]]
[[sv:22q11-deletionsyndromet]]
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