Beckwith-Wiedemann Syndrome - FISH Analysis beckwithwiedemann syndrome FISH ANALYSIS. FISH analysis for beckwith-wiedemann syndrome is performed on interphase chromosomes. http://www.bcmgeneticlabs.org/tests/cyto/beckwith.html
Extractions: Beckwith-Wiedemann is an overgrowth syndrome characterized by macrosomia, macroglossia (large tongue), omphalocele, neonatal hypoglycemia and ear creases. Individuals with Beckwith-Wiedemann syndrome are at increased risk for certain tumors such as Wilms tumor and neuroblastoma. Reasons for Referral: Patients with clinical features suggestive of Beckwith-Wiedemann syndrome may be tested for a duplication of 11p15.5 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and has been shown to have a duplication detectable by FISH. Please call regarding all prenatal samples.
Beckwith-Wiedemann Syndrome (BWS): DNA ANALYSIS beckwithwiedemann syndrome (BWS) Genetic Analysis. Indications for Molecular Testing for BWS. · Suspected diagnosis of a child with BWS. http://www.surgery.wustl.edu/bjcmdl/BWS.htm
Extractions: Beckwith-Wiedemann Syndrome (BWS): Genetic Analysis Suspected diagnosis of a child with BWS Suspected diagnosis of a congenital overgrowth syndrome with at least two of the following symptoms present: th % corrected for gestational age) macroglossia abdominal wall defects neonatal hypoglycemia ear creases/pits AIM: To provide molecular detection of methylation abnormalities of H19 and/or LIT1 or UPD of 11p15 both LIT1 and H19 associated with diagnosis of BWS. Direct mutation testing involves determination of restriction fragment sizes and methylation status following BamH1 + Not1 (Lit1) or Pst1 + Sma1 (H19) digestion and genomic Southern hybridization with Lit1 or H19 probes, respectively. Unmethylated, expressed regions are digested with Not1 or Sma1. Normal Lit1 gene expression occurs from the paternal allele with methylation of the maternal allele. Normal H19 expression occurs from the maternal allele with methylation of the paternal allele. Individuals with BWS and specific mutations exhibit unbalanced DNA patterns for one or both of these genetic regions. Confirmation of uniparental disomy (UPD) with microsatellite markers is also performed upon abnormal methylation of both LIT1 and H19.
Beckwith-Wiedemann Syndrome (BWS): Genetic Analysis SimpsonGolabi-Behmel Syndrome (SGBS) Genetic Analysis. Suspected diagnosis of a child with SGBS, a rare, X-linked overgrowth syndrome. http://www.surgery.wustl.edu/bjcmdl/SGBS.htm
Extractions: Simpson-Golabi-Behmel Syndrome (SGBS): Genetic Analysis Suspected diagnosis of a child with SGBS, a rare, X-linked overgrowth syndrome Suspected diagnosis of a congenital overgrowth syndrome with any or all of the following symptoms present: th % corrected for gestational age) macroglossia macrocephaly polydactyly or syndactyly supernumerary nipples abdominal wall defects neonatal hypoglycemia AIM: To provide molecular detection of deletion mutations of the glypican 3 gene (GPC3) associated with diagnosis of SGBS. Direct mutation testing involves polymerase chain reaction (PCR) amplification of each exon of GPC3 followed by gel analysis to detect deletions of GPC3 coding regions and loss of normal protein. SGBS is a rare, X-linked overgrowth syndrome thus loss of GPC3 coding regions is easily assessed in male patients with SGBS. Up to 45% of individuals with SGBS exhibit GPC3 deletion mutations. Other types of disease-causing mutations in GPC3 may be identified as part of an ongoing research study at Washington University School of Medicine in the SGBS Registry. This team of professionals is dedicated to assisting families with SGBS and to learning more about the syndrome.
Health - Conditions And Diseases - Genetic Disorders - Beckwith Top Health Conditions and Diseases Genetic Disorders beckwithwiedemann syndrome Adam.com An Overview - A definition of beckwith http://www.sedirectory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Beck
Extractions: Web Hosting Dir Web Design Dir Search Engine Dir Hardware Info ... Resources Search: Top Health Conditions and Diseases Genetic Disorders ... Adam.com: An Overview - A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors. Beckwith-Wiedemann and Related Disorders Victoria - Information resource for families affected by the overgrowth disorders Beckwith-Wiedemann Syndrome, Simpson-Golabi-Behmel Syndrome or Isolated Hemihypertrophy. Beckwith-Wiedemann Family Chat Forum - An international email discussion group promoting the exchange of Beckwith-Wiedemann Syndrome (BWS) related information and support. Beckwith-Wiedemann Family Forum - A way for people from around the world who are interested in BWS to get support and share information. Beckwith-Wiedemann Support Group - UK based support group. Offers a database of information and puts parents in contact with others in their locality. BWSN: Beckwith-Wiedemann Syndrome - Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group. The CaF Directory - A description of beckwith-wiedemann syndrome, features, and possible complications. Also information about a support group.
The 11-14-week Scan - Chapter 2.13 The 1114-week scan. KH Nicolaides, NJ Sebire, RJM Snijders. beckwith-wiedemann syndrome. This is a usually sporadic and occasionally http://www.fetalmedicine.com/11-14scanbook/Chapter2/chap02-13.htm
Extractions: KH Nicolaides, NJ Sebire, RJM Snijders BECKWITH-WIEDEMANN SYNDROME This is a usually sporadic and occasionally familial syndrome with a birth prevalence of about 1 in 14,000. It is characterized by macrosomia and hyperplasia and/or hypertrophy of the tongue, kidneys, adrenals, and pancreas, exomphalos and neonatal hypoglycemia and polycythemia. In some cases, there is mental handicap, which is thought to be secondary to inadequately treated hypoglycemia. About 5% of affected individuals develop tumors during childhood, most commonly nephroblastoma and hepatoblastoma. In The Fetal Medicine Foundation Project ( Table 2 Return to Contents Page Next..
Extractions: Beckwith-Wiedemann Syndrome HOUSTON(May 7, 1997)A birth-defect disorder known as Beckwith-Wiedemann syndrome that predisposes children to cancer is caused by mutations in a particular gene, according to researchers at Baylor College of Medicine and Howard Hughes Medical Institute (HHMI) in Houston and Albert Einstein College of Medicine in Bronx, N.Y. As reported in the May 8 issue of Nature, Beckwith-Wiedemann syndrome (BWS) occurs when there is a mutation in a gene called "p57KIP2". BWS affects one in 13,700 babies. The syndrome is characterized by a variety of physical abnormalities, including enlarged kidneys, liver, spleen, adrenal glands, tongue and other internal organs, gigantism resulting from extremely rapid bone growth, and an umbilical hernia, a condition in which the small intestines hang outside the navel. Babies with BWS are 1,000 times more likely to develop cancer during childhood. Currently, treatment is limited to surgery to correct the abnormalities. Dr. Stephen J. Elledge, a Baylor professor of biochemistry and an HHMI investigator, headed a research team that identified the p57KIP2 gene on chromosome 11 a few years ago. But the researchers were not able to confirm the link between the gene and BWS until they observed abnormalities in a mouse that lacked p57KIP2
Entrez PubMed Click here to read Association of in vitro fertilization with beckwithwiedemann syndrome and epigenetic alterations of LIT1 and H19. http://www.facultyof1000.com/pubmed/12439823
Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Indian Pediatrics - Editorial Incomplete beckwithwiedemann syndrome in a Child with Orbital Rhabdomyosarcoma. The Beckwith, Wiedemann Syndrome Medicine Baltimore 1970; 49 279-298. http://www.indianpediatrics.net/mar2002/mar-299-304.htm
Beckwith-Wiedemann Syndrome » Medical Diagnosis Medical Diagnosis » B » beckwithwiedemann syndrome. beckwith-wiedemann syndrome. beckwith-wiedemann syndrome. OVERVIEW A syndrome http://www.medfamily.org/diagnosis/B/diagnosis-terms-Beckwith_Wiedemann_syndrome
Extractions: Although the medFamily materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.
Extractions: Although the medFamily materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.
Penn State Faculty Research Expertise Database (FRED) Faculty Research Expertise Database. beckwithwiedemann syndrome. Beckwith Wiedemann Syndrome, Exomphalos Macroglossia Gigantism Syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D001506
Image: Macroglossia In Beckwith-Wiedemann Syndrome Click here to return to the Pediatric Surgery at Brown Home Page. Key words macroglossia, tongue, macrosomia, hernia of umbilical http://bms.brown.edu/pedisurg/Brown/IBImages/AbdWallDefects/Macroglossia.html
Extractions: Click here to return to the Pediatric Surgery at Brown Home Page Key words: macroglossia, tongue, macrosomia, hernia of umbilical cord, omphalocele, exomphalos, umbilical cord, Beckwith-Wiedeman, Wiedemann, Wilms, hepatoblastoma, insulin, hypoglycemia, hemi-hypertrophy, aniridia, peel, gastroschisis, abdominal wall defect, laparoschisis, scaphoid abdomen, amniotic fluid, short bowel, short gut, atresia, umbilical cord, fetus, ultrasound, newborn, prenatal diagnosis, amnioinfusion
Search Health Information Back to Search beckwithwiedemann syndrome (Disease). Causes And Risk. The cause of beckwith-wiedemann syndrome is unknown, but it appears to be genetic. http://www.ihsdesmoines.org/body.cfm?id=692&action=detail&AEProductID=AdamEncy&A
Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Entrez PubMed Click here to read beckwithwiedemann syndrome demonstrates a role for epigenetic control of normal development. Weksberg R, Smith http://www.biomedcentral.com/pubmed/12668598
Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
GeneCards Disorder Information: Beckwith-wiedemann Syndrome GeneCards Disorder Information beckwithwiedemann syndrome. Search different databases containing disease information by clicking on the buttons below. http://genecards.bcgsc.ca/cgi-bin/disodisp?Beckwith-Wiedemann syndrome
Beckwith-Wiedemann Syndrome. Three Case Report... 172. beckwithwiedemann syndrome. Three case report. ABSTRACT. beckwith-wiedemann syndrome was first described in 1963. It http://www.imbiomed.com/ADM/Odv58n5/english/Zod015-03.html
Extractions: ABSTRACT Beckwith Wiedemann syndrome was first described in 1963. It is a rare congenital disease asso ciated with macrosomy, onfalocele, craniofacial dismorfism, macroglosia, visceromegaly, hemihypertrophy and Wilms tumors. Head and neck signsare of variable expression including dental and cranio facial anomalies. Three cases are reviewed and treated with partial glossectomy. Key words: Beckwith Wiedemann, syndrome, macroglosia
