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Velo-cardio-facial Syndrome:     more books (17)

Educating Children with Velo-Cardio-Facial Syndrome (Genetics and Communication Disorders Series) by Donna Landsman, 2007-04-15 Velo-Cardio-Facial Syndrome, Volume I (Genetic Syndromes and Communication Disorders) by Robert J. Shprintzen, Karen J. Golding-Kushner, 2008-07-01 Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders Growth Velocity, Weight Gain & Growth Charts for Velo-Cardio-Facial Syndrome: Management of Feeding and Swallowing Problems by Robert J. Shprintzen, 2010-01-01 Temporal perception in velo-cardio-facial syndrome [An article from: Neuropsychologia] by M. Debbane, B. Glaser, et all 2005-01 Mathematical disabilities in children with velo-cardio-facial syndrome [An article from: Neuropsychologia] by B. De Smedt, A. Swillen, et all 2007-01 Velo-Cardio-Facial Syndrome Volume 2: Treatment of Communication Disorders by Karen J. Golding-Kushner, Robert J. Shprintzen, 2009-11-01 Footprints of Hope: VCFS (Velo-Cardio-Facial Syndrome) by Raymond Geoffrey Tanner, 2004 Velo-cardio-facial Syndrome by Kieran C. Murphy, 1980 Velo-cardio-facial syndrome. (DVD included) (Genetic syndromes and communication by Robert J. and Karen J. Golding-Kushner. Shprintzen,

lists with details

41. Health Library - Velo-Cardio-Facial Syndrome
    SEARCH. velocardio-facial syndrome. Founded 1996.Support and resource network forfamilies coping with velo-cardio-facial syndrome (aka Shprintzen syndrome).  
    http://www.muskogeehealth.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29v

42. WebGuest - Open Directory Health Conditions And Diseases
    Top Health Conditions and Diseases Genetic Disorders velocardio-facial syndrome(5). See also Health Conditions and Diseases Rare Disorders (126). Sites  
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

43. National Support Groups / Information Sites
    V VATERL. velocardio-facial syndrome velo-cardio-facial syndrome ResearchInstitute; velo-cardio-facial syndrome Educational Foundation.  
    http://www.mostgene.org/support/u-v.htm
    
    Extractions: As scientific findings and medicine are changing rapidly, we urge you to note the date of publication of all material you view. Please consult with your health care provider regarding how any information found on the Internet may apply to your own situation. - U - V National Vitiligo Foundation Von Hippel Lindau Syndrome, (VHL) To Top of Page Home

44. Pediatric Neuropsychological Studies At The Center For Cognitive
    Remember, any decision to participate should be made only after carefuldiscussion of the study with our staff. velocardio-facial syndrome  
    http://ccm.psych.uic.edu/Research/Developmental/developmental.htm

45. The Morrow Lab Home Page
    Three congenital anomaly disorders termed cateye syndrome (CES), der(22) syndrome,and velo-cardio-facial syndrome (VCFS), are associated with tetrasomy  
    http://www.aecom.yu.edu/morrow/
    
    Extractions: The Morrow Lab From left to right:(back) Jun Liao, Kate Koren, Birgit Funke, Bernice Morrow, Elizabeth Spiteri (front) Raj Pandita. Contents Research Interests Useful Links Recent Publications Contact Information Research Interests Chromosome 22 rearrangement disorders Three congenital anomaly disorders termed cat-eye syndrome (CES), der(22) syndrome, and Velo-cardio-facial syndrome (VCFS), are associated with tetrasomy, trisomy and monosomy of 22q11. VCFS is a congenital anomaly disorder associated with hemizygous 22q11 deletions. VCFS is characterized by craniofacial anomalies, heart defects and learning disabilities. It is likely that haploinsufficiency of a gene(s) in 22q11 is responsible for its etiology. To define the region deleted in VCFS patients, we developed a genetic and physical map of the region. Over 90% of the patients have a similar large 3 Mb deletion. Most of the remaining patients had a nested distal deletion breakpoint resulting in a 1.5 Mb deletion. A few rare patients had unique deletions. Over 20 genes from this interval have been isolated to date and mouse models are being developed. Equally as important as identifying the VCFS gene(s), is to determine the molecular basis of the 22q11 deletion. The fact that most VCFS patients have a similar deletion of 3 Mb in size, suggests that sequences at the chromosome breakpoints confer susceptibility to rearrangement. To determine the molecular basis of the common deletion, it is necessary to clone and sequence the deletion breakpoint junction. We found a tandem duplication of 200 kb that surrounds both the breakpoints. It is possible that the deletions are mediated by homologous recombination between the repeats.

46. Dr. Arthur I. Skoultchi
    development. velocardio-facial syndrome A new project in our lab concernsthe molecular basis of velo-cardio-facial syndrome (VCFS). VCFS  
    http://www.aecom.yu.edu/home/sggd/faculty/skoultch.htm
    
    Extractions: skoultch @aecom.yu.edu Our laboratory is interested in understanding the mechanisms controlling mammalian development and cell differentiation. Our approach is to investigate systems in which these processes are disrupted and lead to disease. Currently there are three major projects underway in the lab. Molecular Mechanism of Leukemogenesis: In one project we are trying to understand how erythroleukemias, tumors of the red blood cell lineage, arise and why these tumor cells are blocked from differentiating. We have traced the cause of the differentiation block in erythroleukemia to the activation of a transcription factor called PU.1 which is normally expressed only in white blood cells. We are trying to learn how activation of PU.1 causes the erythroleukemia cells to stop differentiating and start proliferating in an uncontrolled manner by: (1) studying the effect of PU.1 on other gene products, including Rb, cyclins, cyclin-dependent kinases (cdks) and cdk inhibitors that regulate cell proliferation, and (2) studying the effect of PU.1 on gene products required for promoting red blood cell differentiation.

47. CHIN: Velocardiofacial Syndrome
    Written by Rosalie Goldberg, MS CGC Genetic Counselor Human Genetics Program,Family Core velocardio-facial syndrome Institute, Montefiore Medical Center  
    http://www.tchin.org/resource_room/c_art_01.htm
    
    Extractions: Posted: May 9,1997 Velo-cardio-facial syndrome (VCFS) is a genetic condition commonly associated with cleft palate, cardiac malformations, severe speech problems and learning disabilities. VCFS, like many genetic disorders, may arise spontaneously as a new mutation, or may be inherited from an affected parent. The mutation causing VCFS is a deletion of genetic material on one of the two chromosome 22's. If the mutation is present in the parent, then that parent has a 50% chance of passing on the deletion to his or her children. This is called autosomal dominant inheritance. Ninety percent of patients with the 22q11.2 deletion have not inherited the deletion from either parent; in fact, the mutation is a new occurrence. We do not yet know how or why these spontaneous mutations occur. A laboratory test is available to look for 22q11 deletions. The test will be described below. The face of VCFS has a characteristic although not abnormal appearance. In a young child it is the nose and ears that direct the geneticist, cardiologist, otolaryngologist (ear doctor) or plastic surgeon to think of the syndrome. The diagnosis is suspected in newborns with a combination of congenital heart disease and cleft palate. Most often those youngsters have minor anomalies of the external ears as well as the heart and palate. Feeding problems with nasal regurgitation of milk are common. The most frequent heart problems seen in children with a deletion of chromosome 22q are interrupted aortic arch, truncus arteriosus, tetralogy of Fallot with pulmonary atresia, absent pulmonary valve syndrome, simple tetralogy of Fallot, conotruncal venticular septal defect and any congenital heart defect with absence of the thymus.

48. Look.com - The Search Engine Of Search Engines -
    velocardio-facial syndrome (5) See Also. SAIDA, A definition of Velo-Cardio-FacialSyndrome along with a support group in Johannesburg.  
    http://www.look.com/searchroute/directorysearch.asp?p=551158

49. EnableNet - Enablenet.browse.browse
    Dis Multiple Disabilities velocardio-facial syndrome Velo-Cardio-FacialSyndrome Matching Resources. Records 1-2 of 2  
    http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=1958

50. 10 NEWS Health Facts - WTAJ-TV
    velocardio-facial syndrome. VCFS. VCFS (velo-cardio-facial syndrome) is a geneticcondition caused by the absence of a small part of chromosome 22.  
    http://www.wtajtv.com/health/vcfs.html
    
    Extractions: Helping You Learn More About Your Health VCFS (Velo-Cardio-Facial Syndrome) is a genetic condition caused by the absence of a small part of chromosome 22. Although relatively unknown, it's one of the most common genetic disorders in humans. The Velo-Cardio-Facial Syndrome Educational Foundation estimates about one out of every 2000 people have it. The gene for VCFS can be passed from parent to child. If one parent has the defective gene, there is a 50 percent chance the child will also have it. But, only about 10 to 15 percent are believed to be inherited. In the remaining cases, the gene mutation occurs spontaneously or for an unknown reason. More than 180 different abnormalities are associated with VCFS. Researchers say most patients have 40 or more of the symptoms. Some of the most common include: cleft palate (complete or submucous cleft), heart abnormalities (such as ventricular or atrial septal defect), learning disabilities (such as problems with abstract reasoning and reading comprehension), speech/language problems (nasal speech and problems with articulation), and early feeding problems. People with VCFS also have a very characteristic facial appearance with an elongated face, almond-shaped eyes, small ears, and a wide nose. As adults, patients tend to have a higher frequency of psychiatric illnesses. A small number develop severe psychosis. Currently, there's no cure for VCFS. Doctors are getting better at detecting the symptoms during infancy and referring patients to specialized centers. (Some adult cases are only detected when a child is diagnosed and the doctor discovers the parent also has symptoms.) Once the condition is diagnosed, a thorough examination is needed to detect possible abnormalities that can be corrected early in life (such as heart problems). Despite all the possible problems, doctors say it's possible for children with VCFS to live relatively normal lives.

51. Di George Syndrome
    Chat Rooms velocardio-facial syndrome (VCFS) and DiGeorge Chat Room.Mailing Lists velo-cardio-facial syndrome (VCFS) Digest This  
    http://www.communicationdisorders.net/diGeorgesyndrome.html

52. CSH/Sjældne Handicap/Kromosom 22q11 Deletion Syndrom / Catch 22/Mere Viden
    The velocardio-facial syndrome Information Page er en omfattende hjemmeside omVCFS for fagfolk og familier berørt af VCFS; der er links til artikler, til  
    http://www.csh.dk/sjaeldne_handicap/Kromosom22q11/mereviden.html
    
    Extractions: [Indholdsfortegnelse] [Forrige] Kontakt til andre: Center for Små Handicapgruppers kontaktordning er et tilbud til mennesker med sjældne sygdomme og handicap, som ikke har en forening eller andet netværk i Danmark at henvende sig til. Via kontaktordningen tilbyder vi at formidle kontakt mellem personer eller familier, der lever med samme sjældne handicap. Der findes kontaktperson(er) for Kromosom 22q11 deletion syndrom. Hvis du ønsker kontakten, kan du kontakte os via formularen eller ringe til os på tlf.: 3391 4020. Immun-Defekt Foreningen c/o Jan Simonsen

53. DiGeorge Sequence/Velocardiofacial Syndrome
    Parathyroids; Third and Fourth Pharyngeal Pouch Syndrome). DIGEORGE SYNDROME;Emily has DiGeorge; DiGeorge Anomaly; velocardio-facial syndrome;  
    http://www.bdid.com/digeorge.htm

54. Nature Publishing Group: Error Page
    Article. Atypical deletions suggest five 22q11.2 critical regions relatedto the DiGeorge/velocardio-facial syndrome. Francesca Amati  
    http://www.nature.com/doifinder/10.1038/5200399

55. VCFS And DiGeorge Links
    a newsletter for families and patients with the 22q11.2 microdeletion, the deletionwhich causes DiGeorge Syndrome, velocardio-facial syndrome (VCFS), and  
    http://www.easystreet.com/~paulag/vcfs.html
    
    Extractions: VCFS , an email list for individuals, professionals, and family members with individuals with VCFS or DiGeorge Syndrome (22q11.2 deletion). Explore and search the archives . Researchers and professionals are also invited to participate. To subscribe, go fill out the form 22q and You , a newsletter for families and patients with the 22q11.2 microdeletion, the deletion which causes DiGeorge Syndrome, Velo-Cardio-Facial Syndrome (VCFS), and some cases of Opitz G/BBB Syndrome. A very nice, comprehensive chromosome 22 site Chromosome 22 Central has information on many chromosome 22 disorders and a great list of links. The Velo-Cardio-Facial Syndrome Educational Foundation Site , which has an e-mail link to Dr. Shprintzen in Syracuse! Another good site from England and Wales about VCFS, DiGeorge Syndrome, and the 22q11 deletion. This is the VCFS Foundation Site in Australia , who in the Fall of 2002 hosted a conference and fundraiser ball! The Family Village VCFS Page The Family Village DiGeorge Syndrome Page Velo-Cardio-Facial Syndrome Research Insitute with a mail link to Rosalie Goldberg.

56. CoGENT - Neurogenetic And Neurodevelopmental Disorder Definitions
    disorders currently under investigation are Fragile X syndrome, Turner's Syndrome,William's syndrome, velocardio-facial syndrome, Autism, and ADHD.  
    http://cogent.stanford.edu/neuro.html
    
    Extractions: Fragile X syndrome is a common hereditary cause of mental retardation and learning disability. Both males and females can be affected by Fragile X syndrome, although females often have milder effects. Males with Fragile X syndrome usually have mental retardation, and may have some autistic-like behaviors. Females with Fragile X syndrome may have mental retardation or learning disabilities, social difficulties, and anxiety. Turner syndrome is a genetic disorder that occurs only in females and arises from partial or complete absence of the X chromosome. Turner syndrome occurs in about 1 in 2500 female births. Physical manifestations of this syndrome include some of the following: gonadal dysgenesis, lack of pubertal maturation, infertility, short stature, shield chest, webbing of the neck, coarctation of the aorta, and horseshoe kidney. The neurocognitive profile of females with Turner syndrome includes: preserved verbal skills as well as specific deficits in visuo-spatial tasks, visual memory, and arithmetic.

57. Listings Of The World Health Conditions And Diseases Genetic
    Top Health Conditions and Diseases Genetic Disorders VeloCardio-FacialSyndrome. VCFS humans. velo-cardio-facial syndrome is More.  
    http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-C

58. The Scientist :: Gene For DiGeorge Syndrome
    DiGeorge syndrome (DGS; also known as velocardio-facial syndrome) is associatedwith hemizygous deletion of a region of human chromosome 22q11, causing a  
    http://www.biomedcentral.com/news/20010227/02/
    
    Extractions: DiGeorge syndrome (DGS; also known as Velo-cardio-facial syndrome ) is associated with hemizygous deletion of a region of human chromosome 22q11 , causing a range of abnormalities including cardiovascular defects, hypoplasia of the thymus and parathyroid gland, and craniofacial abnormalities. Three research groups have identified the gene, a member of the T-box family of transcription factors, as a key determinant of the DGS phenotype. Merscher et al Cell :619-629) and Lindsay et al Nature :97-101) used chromosomal engineering induced using the Cre recombinase and artificial chromosome transgenesis to localize the haplosufficiency region on the mouse chromosome, chromosome 16, that corresponds to the human disease region. This region contains the gene, expression of which in the pharyngeal arches makes it a strong candidate gene for DGS. Both groups, together with Jerome and Papaioannou ( Nature Genetics 286-291), show that haploinsufficiency in mice causes cardiovascular defects and anomalies of the heart outflow tract that resemble the human syndrome. Furthermore

59. Canadian Journal Of Psychiatry - Genetic Insights Into Schizophrenia - March 200
    velocardio-facial syndrome Frequency and extent of 22q11 deletions. Highrates of schizophrenia in adults with velo-cardio-facial syndrome.  
    http://www.cpa-apc.org/Publications/Archives/CJP/2001/Mar/Genetic7.asp

60. Canadian Journal Of Psychiatry - In Review - March 2001
    67. Murphy KC, Jones AL, Owen MJ. High rates of schizophrenia in adults withvelocardio-facial syndrome. Arch Gen Psychiatry 1999;56940–5. 68.  
    http://www.cpa-apc.org/Publications/Archives/CJP/2001/Mar/Inreview8.asp

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