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11q deletion syndrome - chromosomal disorder causing delayed development and short stature Definition for 11q deletion syndrome Jacobsen Syndrome, also known as 11q deletion, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. more Jacobsen Syndrome, also known as 11q deletion, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause mild mental retardation, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen in 1973, and is believed to occur in approximately 1 out of every 100,000 births. less some common symptoms cognitive defect delayed development learning problems short stature some related diagnoses 1 - 7 of 18 diagnoses fetal alcohol syndrome Hartnup disease human immunodeficiency virus infections hydrocephalus urea cycle disorders pervasive developmental disorder absence seizures   more do i have '11q deletion syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for '11q deletion syndrome' 1 - 2 of 2 diagnostic tests Chromosomal analysis 11q deletion syndrome and Chromosomal analysis Developmental testing 11q deletion syndrome and Developmental testing therapeutic procedures for '11q 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 11q deletion syndrome: therapeutic procedure search results for '11q deletion syndrome' rankings are computer generated. please consult your health care provider. medications search results for '11q deletion syndrome' rankings are computer generated. please consult your health care provider. web search results for 11q deletion syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - 11q deletion syndrome Ophthalmic manifestations of the chromosome 11q deletion syndrome. Ophthalmic manifestations of the chromosome 11q deletion syndrome. ... Chromosome Deletion* Chromosomes, Human, Pair 11* Chromosomes, Human, Pair 14. Eye ... http://www.ncbi.nlm.nih.gov/pubmed/8488925   www.ncbi.nlm.nih.gov - summary Prenatal diagnosis of a 11q deletion syndrome associated with ... Prenatal diagnosis of a 11q deletion syndrome associated with unilateral hydronephrosis diagnosed by 3D ultrasound examination. ... http://www.ncbi.nlm.nih.gov/pubmed/17729374   www.ncbi.nlm.nih.gov - summary Jacobsen distal 11q deletion syndrome with a myelodysplastic ... Jacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells. ... Cytogenetic analysis showed deletion of the long arm of chromosome 11 ... http://www.ncbi.nlm.nih.gov/pubmed/9482638   www.ncbi.nlm.nih.gov - summary Blood/lymphatic system - Genetics Home Reference ATR-X syndrome see alpha thalassemia X-linked mental retardation syndrome ... 11q deletion disorder see Jacobsen syndrome. 11q deletion syndrome see Jacobsen syndrome ... http://ghr.nlm.nih.gov/conditionCategory/bloodlymphatic-system   ghr.nlm.nih.gov - summary New Descriptors by Tree Subcategory - 2008 Sertoli Cell-Only Syndrome. C13 (Female Urogenital Diseases and Pregnancy Complications) ... Jacobsen Distal 11q Deletion Syndrome. Langerhans Cell Sarcoma ... http://www.nlm.nih.gov/mesh/newbysub2008.html   www.nlm.nih.gov - summary Immunological profile in a chromosome 18 deletion syndrome ... Immunological profile in a chromosome 18 deletion syndrome with IgA deficiency. S C Finley, M D Cooper, W H ... in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468779/   www.ncbi.nlm.nih.gov - summary Jacobsen syndrome - Wikipedia, the free encyclopedia Jacobsen Syndrome, also known as 11q deletion, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that ... http://en.wikipedia.org/wiki/Jacobsen_syndrome   en.wikipedia.org - summary Submicroscopic deletions of 11q24-25 in individuals without ... The 11q deletion has traditionally been identified by routine ... The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clinical ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648978/   www.ncbi.nlm.nih.gov - summary Bones, muscles, and connective tissues - Genetics Home Reference Albright hereditary osteodystrophy-like syndrome see 2q37 deletion syndrome ... 11q deletion syndrome see Jacobsen syndrome. 11q23 deletion disorder see Jacobsen syndrome ... http://ghr.nlm.nih.gov/conditionCategory/bones-muscles-and-connective-tissues   ghr.nlm.nih.gov - summary 2010 MeSH Tree Structures. C16 - Congenital, Hereditary, and ... Jacobsen Distal 11q Deletion Syndrome [C16.131.260.440] ... Jacobsen Distal 11q Deletion Syndrome [C16.320.180.440] Prader-Willi Syndrome [C16.320. ... http://www.nlm.nih.gov/mesh/2010/mesh_trees/C16.html   www.nlm.nih.gov - summary The 11q- syndrome with mosaic partial deletion of 11q. The 11q- syndrome with mosaic partial deletion of 11q. Ishida Y, Watanabe N, Ishihara Y, ... She exhibited growth retardation and the typical phenotype of 11q- syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/1285504   www.ncbi.nlm.nih.gov - summary Heart and circulation - Genetics Home Reference 22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome ... 11q terminal deletion disorder see Jacobsen syndrome. Teschler-Nicola/Killian syndrome see ... http://www.ghr.nlm.nih.gov/conditionCategory/heart-and-circulation   www.ghr.nlm.nih.gov - summary New Descriptors - 2008 Immune Reconstitution Inflammatory Syndrome. Immunoglobulin Light Chains, Surrogate ... Jacobsen Distal 11q Deletion Syndrome. KATP Channels. Langerhans Cell ... http://www.nlm.nih.gov/mesh/newd2008.html   www.nlm.nih.gov - summary Jacobsen syndrome - Genetics Home Reference Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. ... 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. ... http://ghr.nlm.nih.gov/condition=jacobsensyndrome   ghr.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical ... Find a comprehensive index of trusted health and medical information. It is your ultimate ... Syndrome, Partial. Del(9p) Syndrome, Partial. Delayed Hypersensitivity. Deletion 11q ... http://www.webmd.com/a-to-z-guides/health-topics/da-de.htm   www.webmd.com - summary Interstitial 11q deletion derived from a maternal ins(4;11 ... Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review. ... with Jacobsen syndrome and an interstitial 11q deletion reported thus ... http://www.ncbi.nlm.nih.gov/pubmed/19449434   www.ncbi.nlm.nih.gov - summary Digestive system - Genetics Home Reference 11q terminal deletion disorder see Jacobsen syndrome. Thymidine phosphorylase deficiency ... Velo-cardio-facial syndrome see 22q11.2 deletion syndrome ... http://ghr.nlm.nih.gov/conditionCategory/digestive-system   ghr.nlm.nih.gov - summary Group G deletion syndromes. Burgio GR, Severi F, Rossoni R, Vaccaro R. Autoantibodies in Down's syndrome. ... in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1469155   www.ncbi.nlm.nih.gov - summary 2008 MeSH Tree Structures. C15 - Hemic and Lymphatic Diseases Jacobsen Distal 11q Deletion Syndrome [C15.378.140.855.440] ... Hyper-IgM Immunodeficiency Syndrome [C15.378.147.333.249] Hyper-IgM Immunodeficiency Syndrome, Type 1 [C15. ... http://www.nlm.nih.gov/mesh/trees2008/C15.html   www.nlm.nih.gov - summary Jacobsen syndrome Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the ... Jacobsen distal 11q deletion syndrome with myelodysplatic change of ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670819/   www.ncbi.nlm.nih.gov - summary Platelet storage pool deficiency in Jacobsen syndrome. Jacobsen syndrome and Paris-Trousseau Syndrome share similar congenital ... 11q Deletion Syndrome/diagnosis. Jacobsen Distal 11q Deletion Syndrome/physiopathology ... http://www.ncbi.nlm.nih.gov/pubmed/17957568   www.ncbi.nlm.nih.gov - summary Orphanet: Syndrome de Jacobsen Le syndrome de Jacobsen est un syndrome de gènes contigus caractérisé ... Le diagnostic prénatal de la délétion 11q est possible par l'analyse cytogénétique des ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2308.0   www.orpha.net - summary Paris-Trousseau syndrome - Wikipedia, the free encyclopedia Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorragic tendency associated with 11q chromosome deletion.[1] [edit] References ... http://en.wikipedia.org/wiki/Paris-Trousseau_syndrome   en.wikipedia.org - summary Chromosome 11 - Genetics Home Reference Jacobsen syndrome, which is also known as 11q terminal deletion disorder, is ... A condition called Potocki-Shaffer syndrome is caused by the deletion of a segment of the ... http://ghr.nlm.nih.gov/chromosome=11   ghr.nlm.nih.gov - summary Prenatal diagnosis of the distal 11q deletion and review of ... Prenatal diagnosis of the distal 11q deletion and review of the literature. ... CONCLUSION: The distal 11q deletion can be identified prenatally because of parental ... http://www.ncbi.nlm.nih.gov/pubmed/14974122   www.ncbi.nlm.nih.gov - summary Deletion of ETS-1, a gene in the Jacobsen syndrome critical ... Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, ... Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal 11q. ... http://www.ncbi.nlm.nih.gov/pubmed/19942620   www.ncbi.nlm.nih.gov - summary Brain and nervous system - Genetics Home Reference 17q21.31 deletion syndrome see 17q21.31 microdeletion syndrome ... 11q terminal deletion disorder see Jacobsen syndrome. Teschler-Nicola/Killian syndrome see ... http://ghr.nlm.nih.gov/conditionCategory/brain-and-nervous-system   ghr.nlm.nih.gov - summary Distal 11q monosomy syndrome: a report of two Egyptian sibs ... Distal 11q monosomy syndrome: a report of two Egyptian sibs with ... Their karyotypes showed deletion 11q23.3-qter. Patients presented with growth and psychomotor retardation, ... http://www.ncbi.nlm.nih.gov/pubmed/18564501   www.ncbi.nlm.nih.gov - summary Subtle familial translocation t(11;22)(q24.2;q13.33 ... FISH with a panel of BAC probes determined the accurate sizes of the deletion 11q (9.9 Mb) and trisomy 22q (0.8 Mb) ... Jacobsen Distal 11q Deletion Syndrome/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/19029687   www.ncbi.nlm.nih.gov - summary Cell type specificity of PI3K signaling in Pdk1- and Pten ... Combined deletion of Pdk1 and Pten rescued hypertrophy, but not migration ... Jacobsen Distal 11q Deletion Syndrome. Mice. Mice, Knockout. Neurons ... http://www.ncbi.nlm.nih.gov/pubmed/19605683   www.ncbi.nlm.nih.gov - summary Partial 12p deletion: a cause for a mental retardation ... Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome. N C ... in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1013240   www.ncbi.nlm.nih.gov - summary Jacobsen syndrome: report of a patient with severe eye ... Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone ... Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050734/   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net ... Statistique d'Usage du Serveur Orphanet orphanet.orpha.net. Période du résumé: Mars 2008 ... 1.75% http://www.orpha.net//consor/cgi-bin/OC_Exp.php 205516 1.69 ... http://www.orpha.net/stat/orphanet/ref_200803.html   www.orpha.net - summary Partial deletion of long arm of chromosome 11[del(11)(q23 ... Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. ... Proximal 4p-deletion: phenotype differs from classical 4p-syndrome. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1013641/   www.ncbi.nlm.nih.gov - summary Clinical and Molecular Characterization of Patients with ... Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. ... The typical 11q monosomy syndrome is due to deletion of subband 11q24. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801184/   www.ncbi.nlm.nih.gov - summary CADM1 is a strong neuroblastoma candidate gene that maps ... To refine the critical region of 11q loss, the chromosome 11 status of 100 ... Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442116/   www.ncbi.nlm.nih.gov - summary Localization of Jacobsen Syndrome Breakpoints on a 40-Mb ... Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q ... of Jacobsen syndrome patients, the chromosome deletion is associated with ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC310705/   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net ... Statistique d'Usage du Serveur Orphanet orphanet.orpha.net. Période du résumé: Mai 2008 ... 400755 2.71% http://www.orpha.net/consor/cgi-bin/screen.css 216652 ... http://www.orpha.net/stat/orphanet/ref_200805.html   www.orpha.net - summary Jacobsen syndrome. Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the ... Prenatal diagnosis of 11q deletion is possible by amniocentesis or ... http://www.ncbi.nlm.nih.gov/pubmed/19267933   www.ncbi.nlm.nih.gov - summary Submicroscopic deletions of 11q24-25 in individuals without ... ABSTRACT: BACKGROUND: Jacobsen syndrome is a rare contiguous gene disorder that ... The 11q deletion has traditionally been identified by routine chromosome analysis. ... http://www.ncbi.nlm.nih.gov/pubmed/19000322   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net ... Statistique d'Usage du Serveur Orphanet orphanet.orpha.net. Période du résumé: Juin 2008 ... .de/rw/diagnoses/18p+deletion+syndrome 114 0.00% http://www.orpha. ... http://www.orpha.net/stat/orphanet/ref_200806.html   www.orpha.net - summary Chromosome abnormality - Wikipedia, the free encyclopedia Turner Syndrome is an example of a monosomy where the individual is born with ... 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder. ... http://en.wikipedia.org/wiki/Chromosome_abnormality   en.wikipedia.org - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net ... ... syndrome de klinefelter 56 0.10% biliary atresia 56 0.10% cornelia de ... parsonage turner 21 0.04% parsonage turner syndrome 21 0.04% penfigoide bulloso ... http://www.orpha.net/stat/orphanet/search_200702.html   www.orpha.net - summary Multiple congenital anomalies associated with a ring-D chromosome. Absent thumbs with a ring D2 chromosome: a new deletion syndrome. ... TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468734   www.ncbi.nlm.nih.gov - summary Clinical and molecular-cytogenetic evaluation of a family ... ... syndrome (JBS) depend on the size of the 11qter deletion, which ... approximately 5 Mb deletion of the terminal part of chromosome 11q in all the three affected family members. ... http://www.ncbi.nlm.nih.gov/pubmed/18792974   www.ncbi.nlm.nih.gov - summary C16 - Congenital, Hereditary, and Neonatal Diseases and ... Jacobsen Distal 11q Deletion Syndrome. C16.131.260.440. C15.378. C16. ... Distal 11q Deletion Syndrome. C16.320.180.440. C15.378. C16.131. Prader-Willi Syndrome. C16. ... http://www.nlm.nih.gov/mesh/trees2008/C16.pdf   www.nlm.nih.gov - summary Chromosome 11 - Gene Tests - DNA tests ordered by healthcare ... Gene Test: Jacobsen Syndrome (11q- Deletion Syndrome) Gene Test: Potocki-Shaffer Syndrome (11p11.2 Deletion Syndrome) Gene Test: Russell-Silver Syndrome ... http://ghr.nlm.nih.gov/chromosome=11/show/Gene+Tests   ghr.nlm.nih.gov - summary Emanuel Syndrome Emanuel syndrome is characterized by severe mental retardation, ... for the 22q11.2 deletion and for the telomere of. 11q can identify the supernumerary ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Neuroblastoma tumour genetics: clinical and biological aspects Coordinate deletion of chromosome 3p and 11q in neuroblastoma detected by comparative genomic hybridization. ... in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. ... http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731335   www.ncbi.nlm.nih.gov - summary Paris-Trousseau syndrome : clinical, hematological, molecular ... ... (5):770-1. Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorragic tendency associated with 11q chromosome deletion. ... http://www.ncbi.nlm.nih.gov/pubmed/14597985   www.ncbi.nlm.nih.gov - summary show more 1  2