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13q deletion syndrome - rare chromosomal disorder involving long arm of chromosome 13 Definition for 13q deletion syndrome http://health.yahoo.com/ency/healthwise/_nord643 some common symptoms delayed development face deformities not gaining weight vision problems some related diagnoses 1 - 7 of 15 diagnoses fetal alcohol syndrome common variable immunodeficiency Hartnup disease human immunodeficiency virus infections malnutrition hydrocephalus renal osteodystrophy   more do i have '13q deletion syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for '13q deletion syndrome' 1 - 3 of 3 diagnostic tests Chromosomal analysis 13q deletion syndrome and Chromosomal analysis Developmental testing 13q deletion syndrome and Developmental testing ultrasonography face 13q deletion syndrome and ultrasonography face therapeutic procedures for '13q deletion syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for 13q deletion syndrome: therapeutic procedure search results for '13q deletion syndrome' rankings are computer generated. please consult your health care provider. medications search results for '13q deletion syndrome' rankings are computer generated. please consult your health care provider. web search results for 13q deletion syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - 13q deletion syndrome Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker ... Prenatal diagnosis of 13q-syndrome in a fetus with Dandy ... Chromosome analysis identified chromosome 13q deletion [46 XY del (13) (13q31.2/q32.1 --> qter) ... http://www.ncbi.nlm.nih.gov/pubmed/15863591   www.ncbi.nlm.nih.gov - summary Deletion of chromosome 13 in Moebius syndrome. ... Genet. 1991 Jun;28(6):413-4. Deletion of chromosome 13 in Moebius syndrome. ... the second report concerning involvement of chromosome 13q and Moebius syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/1870098   www.ncbi.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Syndrome, Partial. Deletion 13q Syndrome, ... http://www.webmd.com/a-to-z-guides/health-topics/da-de.htm   www.webmd.com - summary Severe congenital Factor VII deficiency associated with the 13q ... ... congenital Factor VII deficiency associated with the 13q deletion syndrome. ... Factor VII deficiency in association with the 13q deletion syndrome is presented. ... http://www.ncbi.nlm.nih.gov/pubmed/12410585   www.ncbi.nlm.nih.gov - summary 13q partial monosomy syndrome - NextBio 13q Deletion and central nervous system anomalies: further insights from ... Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. ... http://www.nextbio.com/b/home/home.nb?q=13q+partial+monosomy...   www.nextbio.com - summary Prenatal detection of a subtle unbalanced chromosome rearrangement by ... ... deletion was reported from G-banded chromosome analysis and 13q ... studies and autopsy appear to be most consistent with 13q deletion syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/18818501?dopt=Abstract   www.ncbi.nlm.nih.gov - summary Orphanet: Diseases list Tabatznik syndrome. TAC. Tachycardia - hypertension ... Telomeric deletion 12p. Telomeric deletion 12q. Telomeric deletion 13q. Telomeric deletion 14q ... http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=EN&TAG=T   www.orpha.net - summary Esophageal Atresia/Tracheoesophageal Fistula Overview -- GeneReviews ... CHARGE syndrome. ... Opitz syndrome is characterized by midline abnormalities ... Distal 13q Deletion Syndrome and the VACTERL association: case report, ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tef-ov   www.ncbi.nlm.nih.gov - summary Entrez Gene RB1 - GeneRIFs - Genetics Home Reference ... deletion mapping of chromosomal region 13q14 in 43 growth hormone secreting pituitary adenomas. ... involving the 13q chromosome arm committed ... http://ghr.nlm.nih.gov/ghr/locuslink/5925/show/GeneRIFs   ghr.nlm.nih.gov - summary Genomics|HuGENet|Reviews|References|GJB2 and hearing loss|PubMed ID ... ... S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C. A non-syndrome ... recessive deafness maps to the pericentromeric region of chromosome 13q. ... http://www.cdc.gov/genomics/hugenet/reviews/tables/GJB2_Ref.htm   www.cdc.gov - summary Print This Page ... EI, Khouri F, Der Kaloustian VM: Hereditary retinoblastoma and 13q- mosaicism. ... 28. Traboulsi EI, Maumenee IH: Extraocular muscle aplasia in Moebius syndrome. ... http://www.clevelandclinic.org/eye/linked/asp/print.asp?URL=...   www.clevelandclinic.org - 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 - 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 - summary Hirschsprung Disease Overview -- GeneReviews -- NCBI Bookshelf Down Syndrome. MR, short stature, CHD, craniofacial. Trisomy 21. 0.6%-3% Deletion 10q ... Deletion 13q. MR, growth failure, craniofacial features. del 13q22 ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hirschsprung-ov   www.ncbi.nlm.nih.gov - 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 - summary Loeys-Dietz Syndrome -- GeneReviews -- NCBI Bookshelf Mutation detection frequency by deletion analysis is as yet unknown. ... chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=loeys-dietz   www.ncbi.nlm.nih.gov - summary Retinoblastoma -- GeneReviews -- NCBI Bookshelf ... RB as a Group 1 disorder, i.e., a hereditary syndrome for ... in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=retinoblastoma   www.ncbi.nlm.nih.gov - 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 - summary Orphanet: Monosomie 13q14 Le portail des maladies rares et des médicaments orphelins ... Syndrome de déletion 13q14. Résumé. La délétion 13q est une anomalie chromosomique due à une ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=1587   www.orpha.net - summary Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies ... ... developmental retardation, and a subtelomeric deletion of chromosome 13q. ... represent a clinically recognizable, novel chromosomal microdeletion syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/10955572   www.ncbi.nlm.nih.gov - summary PMID 11910512 ... clinical phenotype related to the terminal deletion of the long arm of the ... (the so-called 13q- syndrome) includes a considerable number of malformations, ... http://www.ncbi.nlm.nih.gov/pubmed/11910512   www.ncbi.nlm.nih.gov - 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 - summary 8p partial monosomy syndrome - NextBio ... of de novo partial trisomy 13q (13q22 --> qter) and partial monosomy 8p ... An attempt to establish a new chromosome deletion syndrome. ... http://www.nextbio.com/b/home/home.nb?q=8p+partial+monosomy+...   www.nextbio.com - summary A clinical study for patients with a richter's transformation (OFAR) 196-203 PURPOSE: Richter's syndrome (RS) and fludarabine-refractory chronic ... trisomy 12, and two (40%) of five patients with 13q deletion. ... http://www.ncbi.nlm.nih.gov/pubmed/18182662?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Chromosome 13, Partial Monosomy 13q - Yahoo! Health ... main title of the report Chromosome 13, Partial Monosomy 13q is not the name you expected. Please check the synonyms ... Deletion 13q Syndrome, Partial. 13q ... http://health.yahoo.com/children-resources/chromosome-13-par...   health.yahoo.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ... skull syndrome 10 0.02% colangiocarcinoma 10 0.02% cromosoma 17 10 0.02 ... di glut1 3 0.01% delección parcial 13q 3 0.01% demencia fronto-temporal 3 0.01 ... http://www.orpha.net/stat/orphanet/search_200610.html   www.orpha.net - summary Dandy-Walker syndrome(Dandy-Walker malformation) - NextBio Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy ... Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation. ... http://www.nextbio.com/b/home/home.nb?q=Dandy-Walker+malform...   www.nextbio.com - summary Chromosome 13 (human) - Wikipedia, the free encyclopedia Waardenburg syndrome. Wilson disease. patau syndrome [edit] Chromosomal conditions ... in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion" ... http://en.wikipedia.org/wiki/Chromosome_13_(human)   en.wikipedia.org - summary References ... Arch Intern Med 1966 117 206 212 Herrera L Kakati S Gibas L Gardner syndrome in a man with an interstitial deletion of 5q Am J Med Gene 1986 25 473 476 ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=cmed.biblist.3158   www.ncbi.nlm.nih.gov - summary What Makes a Cancer Cell a Cancer Cell? These deletion events often involve loss of heterozygosity (LOH) of the ... loss occurs in cancer cells on chromosomes 3p, 5q, 7q, 8q, 9p, 13q, 17p, and 18q. ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=cmed.section.1871   www.ncbi.nlm.nih.gov - summary Elena Rossi - NextBio 5-fluorouracil acute coronary syndrome antithrombin Anxiety Depression anxiety ... 13q Deletion and central nervous system anomalies: further insights from ... http://www.nextbio.com/b/literature/literature.nb?author=Elena+Rossi   www.nextbio.com - summary Cancer Medicine These deletion events often involve loss of heterozygosity (LOH) of the ... loss occurs in cancer cells on chromosomes 3p, 5q, 7q, 8q, 9p, 13q, 17p, and 18q. ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=cmed6.section.2419   www.ncbi.nlm.nih.gov - summary Hidrotic Ectodermal Dysplasia 2 -- GeneReviews -- NCBI Bookshelf Whether this deletion affects transcription of GJB2 or represents an example of ... Keratitis-ichthyosis-deafness (KID) syndrome (OMIM:148210) ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ed2   www.ncbi.nlm.nih.gov - summary List of diseases (C) - Wikipedia, the free encyclopedia ... 13q. Chromosome 13p duplication. Chromosome 13q deletion ... Chromosome 18 long arm deletion syndrome. Chromosome 18 mosaic monosomy. Chromosome 18 ring ... http://en.wikipedia.org/wiki/List_of_diseases_(C)   en.wikipedia.org - summary Orsetta Zuffardi - NextBio 12p Angelman syndrome autism BAC balanced translocations bipolar disorder BMPR1A ... 13q Deletion and central nervous system anomalies: further insights from ... http://www.nextbio.com/b/literature/literature.nb?author=Orsetta+Zuffardi   www.nextbio.com - 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 - summary Retinoblastoma ... RB as a Group 1 disorder, i.e., a hereditary syndrome for which ... in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary PMID 9331333 In particular, deletion of the human glypican-3 gene is responsible for Simpson ... of the human genome, deletions of which are associated with human 13q- syndrome, ... http://www.ncbi.nlm.nih.gov/pubmed/9331333   www.ncbi.nlm.nih.gov - summary Silvana Guerneri - NextBio 13q Deletion and central nervous system anomalies: further insights from ... Cytogenetic mapping of a novel locus for type II Waardenburg syndrome. ... http://www.nextbio.com/b/literature/literature.nb?author=Silvana+Guerneri   www.nextbio.com - summary Orphanet: Verzeichnis der Krankheiten Terminale 6q-Deletion. Terminale Knochendysplasie - Pigmentstörungen ... Thoracic outlet syndrome. Thoracic-outlet-Syndrom (TOS) ... http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=DE&TAG=T   www.orpha.net - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Janvier ... syndrome 20 0.04% liposarkom 20 0.04% maladie de fabry 20 0.04% micropenis 20 ... basal 3 0.01% delecion 5p 3 0.01% deletion 1p36 3 0.01% demence a corps de lewy ... http://www.orpha.net/stat/orphanet/search_200701.html   www.orpha.net - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2007 ... syndrome 34 0.02% carcinoma nasofaringeo 34 0.02% demodicidosis 34 0.02% factor ... 7 0.01% y chromosome deletion 6 0.00% abdominal lateral 6 0.00% abnormal ... http://www.orpha.net/stat/orphanet/search_200706.html   www.orpha.net - summary B-cell chronic lymphocytic leukemia - Wikipedia, the free encyclopedia Deletion of the long arm of chromosome 13 (del 13q) is the most common ... 103(2):216-28. "Richter syndrome: biology, incidence, and therapeutic strategies. ... http://en.wikipedia.org/wiki/Chronic_lymphatic_leukemia   en.wikipedia.org - summary Seven examples illustrate the varying success of genetic dissection of ... ... the d allele is a gene deletion resulting in absence of D antigen. ... locus had been mapped to chromosome 13q in a huge multiply inbred Mennonite kindred. ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..Show...   www.ncbi.nlm.nih.gov - summary Myelodysplastic/Myeloproliferative Diseases: Treatment - Health ... ... as a consequence of interstitial chromosomal deletion. ... Weller PF, Bubley GJ: The idiopathic hypereosinophilic syndrome. Blood 83 (10): 2759-79, 1994. ... http://health.yahoo.com/leukemia-treatment/chronic-myeloprol...   health.yahoo.com - summary Orphanet Journal of Rare Diseases hypoplasia and ear deformities), POTTER'S syndrome (renal agenesis, pulmonary ... Trisomy 21 and 18, and 13q deletion. Of the cardiac anomalies, the most common are ... http://asso.orpha.net/CRACMO/upload/file/Assoc2007.pdf   asso.orpha.net - summary Hidrotic Ectodermal Dysplasia 2 Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to ... Whether this deletion affects transcription of GJB2 or ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Talk:Tourette syndrome/Archive 4 - Wikipedia, the free encyclopedia December 18, Created History of Tourette syndrome; 61KB overall, 33KB prose. ... Tourette syndrome edits. Regarding deletion of referenced text twice, copied from: ... http://en.wikipedia.org/wiki/Talk:Tourette_syndrome/Archive_4   en.wikipedia.org - summary Leukemia, chronic lymphocytic: Treatment - Health Professional ... ... et al.: Additional genetic high-risk features such as 11q deletion, 17p deletion, ... Immunogenetic evidence for a broader definition of Felty's syndrome. ... http://health.yahoo.com/leukemia-treatment/leukemia-chronic-...   health.yahoo.com - summary Gap junction protein - Wikipedia, the free encyclopedia A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non ... A novel connexin 30 mutation in Clouston syndrome.". J. Invest. Dermatol. ... http://en.wikipedia.org/wiki/Gap_junction_protein   en.wikipedia.org - summary show more 1  2