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18p deletion syndrome - rare chromosomal disorder involving short arm of chromosome 18
Definition for 18p deletion syndrome
de Grouchy syndrome is a rare congenital medical condition caused by an abnormality involving chromosome 18.
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de Grouchy syndrome is a rare congenital medical condition caused by an abnormality involving chromosome 18. It has two forms, classified as type 1 or type 2, depending on the nature of the genetic lesion.
de Grouchy syndrome type 1 involves deletion of genes from the short arm of the chromosome (18p).
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some common symptoms
behavioral changes
delayed development
language deterioration
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fetal alcohol syndrome
common variable immunodeficiency
Hartnup disease
human immunodeficiency virus infections
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diagnostic test search results for '18p deletion syndrome'
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Chromosomal analysis
18p deletion syndrome and Chromosomal analysis
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18p deletion syndrome and Comprehensive eye exam
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18p deletion syndrome and Developmental testing
Hearing test
standard technique of representing hearing loss
18p deletion syndrome and Hearing test
Vision test
18p deletion syndrome and Vision test
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18p deletion syndrome and X-rays
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18p deletion syndrome and CT craniofacial
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18p deletion syndrome and CT external ear
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18p deletion syndrome and CT face
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18p deletion syndrome and CT middle ear
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18p deletion syndrome and CT scan
speech reception threshold (SRT)
18p deletion syndrome and speech reception threshold (SRT)
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18p deletion syndrome and Speech Therapy
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web search results for 18p deletion syndrome
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- 18p deletion syndrome
MIM Gene map
18p. DEL18p, C18DELp. Chromosome 18p deletion syndrome. 146390. Chromosome 18p deletion syndrome (4) ... Chromosome 18q deletion syndrome (4) DS. 18q. OHDS ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l176888
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
Chromosome 11p15-p14 deletion syndrome (4) DEL11p15p14, C11DELp15p14. 606528. 11p15-p14 ... Chromosome 18p deletion syndrome (4) DEL18p, C18DELp. 146390. 18p ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=770
www.ncbi.nlm.nih.gov
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De Grouchy syndrome - Wikipedia, the free encyclopedia
De Grouchy syndrome type 1 involves deletion of genes from the short arm of the chromosome (18p) ... syndrome type 1 is also called "monosomy 18p" , "18p ...
http://en.wikipedia.org/wiki/De_Grouchy_Syndrome
en.wikipedia.org
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summary
WebMD Health A-Z - Find reliable health and medical information on ...
Chromosome 18, Tetrasomy 18p. Chromosome 18, Trisomy 18 Complete. Chromosome 18q- Syndrome ... Chromosome 8, 8p Deletion Syndrome, Part... Chromosome 8, Monosomy 8p2 ...
http://www.webmd.com/a-to-z-guides/health-topics/cf-cj.htm
www.webmd.com
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summary
MIM Morbid map
Chromosome 18p deletion syndrome (4) DEL18p, C18DELp. 146390. 18p ... Chromosome 9q subtelomeric deletion syndrome, 610253 (3) EHMT1, EUHMTASE1, DEL9q34 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?term=18
www.ncbi.nlm.nih.gov
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summary
Orphanet: Monosomy 18p
The portal for rare diseases ... Deletion 18p-de Grouchy syndrome. Summary ... cases, the 18p- syndrome is due to a mere terminal deletion occurring de novo. ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1598.0
www.orpha.net
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summary
15690352 2005 03 24 2005 05 09 2008 05 21 1552-4825 134A 1 2005 Apr 1 ...
... an 18p deletion syndrome (18pDS); six with an 18q deletion syndrome (18qDS); two with trisomy 18p syndrome; and one with a 45,XY,t(17-18) (cen-q11.2) karyotype. ...
http://www.ncbi.nlm.nih.gov/pubmed/15690352?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ...
danlos 13 0.03% syndrome de gougerot sjogren 13 0.03% xantinuria 12 0.03 ... deficiÊncia de carnitina 3 0.01% definicion de hipotermia 3 0.01% deleção 18p 3 ...
http://orphanet.orpha.net/stat/orphanet/search_200606.html
orphanet.orpha.net
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summary
Search Results
DiGeorge Syndrome: Immunodeficiency Disorders: Merck Manual Professional. DiGeorge syndrome is thymic and parathyroid hypoplasia or aplasia leading to ...
http://www.merck.com/mrksearch/SearchServlet?start=11&nh=10&...
www.merck.com
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summary
OMIM Update List for October, 2008
146390 CHROMOSOME 18p DELETION SYNDROME. 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN ... 612313 CHROMOSOME 2q32-q33 DELETION SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2008
www.ncbi.nlm.nih.gov
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summary
Deletion of short arm of chromosome 18(18p- syndrome) - NextBio
18p- syndrome is caused by the deletion of all or a portion of genetic material ... of the deletion in three patients with an 18p- syndrome and dystonia using ...
http://www.nextbio.com/b/home/home.nb?q=18p-+syndrome&id=142...
www.nextbio.com
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summary
OMIM Update List for November, 2006
Clinical Synopsis for 146390 CHROMOSOME 18p DELETION SYNDROME ... 146390 CHROMOSOME 18p DELETION SYNDROME ... 610543 CHROMOSOME 16p13.3 DELETION SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2006
www.ncbi.nlm.nih.gov
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summary
Orphanet: Diseases list
... deletion 10p. Telomeric deletion 10q. Telomeric deletion ... Tetrasomy 18p. Tetrasomy 21. Tetrasomy 5p. Tetrasomy 9p. Tetrasomy X. Teunissen-Cremers syndrome ...
http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=EN&TAG=T
www.orpha.net
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summary
OMIM Update List for February, 2003
... ALDRICH SYNDROME GENE-LIKE; ... Clinical Synopsis for 607500 CHROMOSOME 18p DELETION SYNDROME. Changed Entries: ... 607500 CHROMOSOME 18p DELETION SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.2003
www.ncbi.nlm.nih.gov
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summary
18p partial trisomy syndrome - NextBio
18p- syndrome alobar holoprosencephaly balanced translocation Bernard-Soulier ... Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all ...
http://www.nextbio.com/b/home/home.nb?q=18p+partial+trisomy+syndrome
www.nextbio.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mai 2006 ...
... vitiligo 328 0.62% brugada syndrome 322 0.61% lupus 254 0.48% drepanocytose 219 ... 5 0.01% deletion 1p36 5 0.01% deleção 5 0.01% dermatoglifos 5 0.01 ...
http://orphanet.orpha.net/stat/orphanet/search_200605.html
orphanet.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2008 ...
Période du résumé: Mars 2008 - Référent. Généré le 01-Apr-2008 22:49 CEST. Hits Référent -3263679 26.78% - (Direct Request) 2234964 18.34% http://www.orpha. ...
http://www.orpha.net/stat/orphanet/ref_200803.html
www.orpha.net
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summary
OMIM Update List for September, 2006
Clinical Synopsis for 610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME ... 146390 CHROMOSOME 18p DELETION SYNDROME. 170280 PERFORIN 1; PRF1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.2006
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
Chromosome 18p deletion syndrome. 146390. Chromosome 18p deletion syndrome (4) Ch. Copyright © 1966-2009 Johns Hopkins University ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d9470
www.ncbi.nlm.nih.gov
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summary
18p partial monosomy syndrome - NextBio
18p- syndrome alobar holoprosencephaly balanced translocation brain chromosomal ... Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all ...
http://www.nextbio.com/b/home/home.nb?q=18p+partial+monosomy...
www.nextbio.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ...
... 153 0.13% cloverleaf skull syndrome 142 0.12% adrenoleucodistrofia 130 0.11 ... deletion 6 0.01% zollinger ellison 6 0.01% ânus 5 0.00% aarskog-scott syndrome 5 ...
http://orphanet.orpha.net/stat/orphanet/search_200707.html
orphanet.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2008 ...
Hits Référent -4616997 32.64% - (Direct Request) 3455157 24.43% http://www.orpha. ... www.medigle.de/rw/diagnoses/18p+deletion+syndrome 114 0.00% http://www.orpha.net ...
http://www.orpha.net/stat/orphanet/ref_200806.html
www.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2007 ...
... klinefelter 125 0.09% capillary leak syndrome 124 0.09% microftalmia 121 0.09 ... hiperoxaluria 24 0.02% lewis sumner syndrome 24 0.02% linfedema congenito 24 ...
http://orphanet.orpha.net/stat/orphanet/search_200708.html
orphanet.orpha.net
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summary
Chromosome 18, Monosomy 18p - Yahoo! Health
... the main title of the report Chromosome 18, Monosomy 18p is not the name you expected. Please check the synonyms ... Syndrome. 18p Deletion Syndrome. 18p ...
http://health.yahoo.com/children-genetic/chromosome-18-monos...
health.yahoo.com
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summary
PMID: 15581839
A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. ... Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well ...
http://www.ncbi.nlm.nih.gov/pubmed/15581839
www.ncbi.nlm.nih.gov
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summary
List of genetic disorders - Wikipedia, the free encyclopedia
1p36 deletion syndrome. D. 1p37. 18p deletion syndrome. D. 18p. 21-hydroxylase deficiency ... 18p. Dejerine-Sottas syndrome. see Charcot-Marie-Tooth disease ...
http://en.wikipedia.org/wiki/List_of_genetic_disorders
en.wikipedia.org
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ...
de cohen 20 0.06% syndrome de marshall 20 0.06% trisomie 18 19 0.06 ... juvenil 2 0.01% deletion 13q 2 0.01% deletion 18p 2 0.01% deletion 18q 2 0.01 ...
http://orphanet.orpha.net/stat/orphanet/search_200607.html
orphanet.orpha.net
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Orphanet: Liste d'articles pour les professionnels
Le portail des maladies rares et des médicaments orphelins ... Délétion 18p-de Grouchy, syndrome de. Article de revue pour professionnels. English ...
http://www.orpha.net/consor/cgi-bin/Disease_ProEncyclo_List.php?lng=FR&TAG=D
www.orpha.net
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summary
MIM Gene map
Majeed syndrome, 609628 (3) REc. 17(Lpin2) 18p. MAFD1, ... Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l139312
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
18p, USP14 to 18q11.2-q12.1, TTR <
... Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l607274
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ...
... microftalmia 72 0.16% sapho 71 0.16% apaiser 69 0.15% capillary leak syndrome 68 ... 31 0.07% parsonage turner syndrome 31 0.07% sindrome di gilbert ...
http://orphanet.orpha.net/stat/orphanet/search_200612.html
orphanet.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2008 ...
Période du résumé: Avril 2008 - Référent. Généré le 01-May-2008 22:45 CEST. Hits Référent -6138045 35.92% - (Direct Request) 3724805 21.80% http://www.orpha. ...
http://www.orpha.net/stat/orphanet/ref_200804.html
www.orpha.net
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summary
PMID 18284672
... cases, the 18p- syndrome is due to a mere terminal deletion occurring de novo, ... deletion 18p syndrome may be vaguely evocative of either Turner syndrome or ...
http://www.ncbi.nlm.nih.gov/pubmed/18284672
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mai 2008 ...
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net. Période ... Généré le 01-Jun-2008 22:39 CEST. Hits Référent -5086188 34.35% - (Direct Request) ...
http://www.orpha.net/stat/orphanet/ref_200805.html
www.orpha.net
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summary
Dystonia Overview -- GeneReviews -- NCBI Bookshelf
Aicardi-Goutières syndrome. Ataxia-telangiectasia ... gene, which reveals a three-base pair GAG deletion in all affected individuals. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dystonia-ov
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ...
autoimmune lymphoproliferative syndrome 18 0.04% balantidiase 18 0.04 ... choroïdérémie 3 0.01% chromosome 1p36 deletion 3 0.01% ciclo del gama glutamilo ...
http://www.orpha.net/stat/orphanet/search_200609.html
www.orpha.net
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summary
18q partial monosomy syndrome - NextBio
18p- syndrome 18q- syndrome amino acid AXIN1 balanced translocation Beckwith ... Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all ...
http://www.nextbio.com/b/home/home.nb?q=18q+partial+monosomy...
www.nextbio.com
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summary
Holoprosencephaly Overview -- GeneReviews -- NCBI Bookshelf
"Pseudotrisomy 13 syndrome," in which affected individuals have a normal ... SIX3, SHH, TGIF, or ZIC2 mutation or deletion/duplication of PTCH1 has been ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hpe-overview
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ...
... 8 0.04% ugola bifida 8 0.04% wrinkly skin syndrome 7 0.04% 18q deletion 7 0.04 ... 192.10 2 0.01% 18p 10 deletion chromosomal disorder 2 0.01% 1p34 2 0.01% 23 ...
http://www.orpha.net/stat/orphanet/search_200712.html
www.orpha.net
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Majeed Syndrome -- GeneReviews -- NCBI Bookshelf
Majeed syndrome is inherited in an autosomal recessive manner. ... 18p. Lipin-2 ... mutation resulting from a 2-bp deletion and the other is a splice site mutation. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=majeed
www.ncbi.nlm.nih.gov
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summary
Russell-Silver Syndrome -- GeneReviews -- NCBI Bookshelf
... mosaic trisomy 18 and deletions of 18p have been reported [Chauvel et al 1975, ... Christensen MF, Nielsen J. Deletion short arm 18 and Silver-Russell syndrome. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rss
www.ncbi.nlm.nih.gov
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summary
18q partial trisomy syndrome - NextBio
18p- syndrome 18q- syndrome balanced translocations Beckwith-Wiedemann syndrome ... Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all ...
http://www.nextbio.com/b/home/home.nb?q=18q+partial+trisomy+...
www.nextbio.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2008 ...
amylose 10 0.02% brugada syndrome 10 0.02% cone rod dystrophy 10 0.02% cutaneous ... reductase deficiency syndrome 2 0.00% 5p deletion karyotype 2 0.00% 81.93.6.203 ...
http://www.orpha.net/stat/orphanet/search_200803.html
www.orpha.net
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summary
Stickler Syndrome -- GeneReviews -- NCBI Bookshelf
... 310460) on Xq28, MYP2 on chromosome 18p, MYP3 (OMIM: 603221) on chromosome 12q, ... substitution or by insertion or deletion of a small number of ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler
www.ncbi.nlm.nih.gov
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List of diseases (0-9) - Wikipedia, the free encyclopedia
18p syndrome, rare (NIH) 1p36 Deletion Syndrome, rare (NIH) ... 22q11.2 deletion syndrome, rare (NIH) ... syndrome, rare (NIH) , see Klinefelter's syndrome. 5 ...
http://en.wikipedia.org/wiki/List_of_diseases_(0-9)
en.wikipedia.org
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Dystonia Overview
18p. Unknown. Dystonia 13. DYT13. Unknown. 1p36.3-p36.1. Unknown ... contiguous gene deletion syndrome at Xq22, which also includes X-linked ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Stickler Syndrome
chromosome 18p, MYP3 (OMIM: 603221) on chromosome 12q, MYP4 (OMIM: ... by single base substitution or by insertion or deletion of a small number of ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Russell-Silver Syndrome
... of RSS who have mosaic trisomy 18 and deletions of 18p have been reported ... Christensen MF, Nielsen J. Deletion short arm 18 and Silver-Russell syndrome. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Partial trisomy of the short arm of chromosome 18 due to inversion ...
... subtle deletion concomitantly involved in the case of inversion duplication 18p. ... Mental Retardation/genetics. Syndrome. Trisomy* PMID: 7889659 [PubMed ...
http://www.ncbi.nlm.nih.gov/pubmed/7889659?ordinalpos=1&itoo...
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ...
... 1p36 deletion syndrome 5 0.01% acantose nigricans 5 0.01% achondroplasie 5 0.01 ... deletion 5 0.01% cinca syndrome 5 0.01% coats 5 0.01% colchicine 5 0.01 ...
http://www.orpha.net/stat/orphanet/search_200608.html
www.orpha.net
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