81. Velo-Cardio-Facial Syndrome, Cincinnati Childrens Hospital Medical Center Return to Site. HeartRelated syndromes. Velocardiofacial syndrome (VCFS). Shprintzensyndrome, Craniofacial syndrome or Conotruncal Anomaly Face syndrome http://www.cincinnatichildrens.org/Health_Topics/heart-encyclopedia/disease/synd

82. MGZ Munich --- Analysis --- English Molecular genetic diagnostics Achondroplasia Adrenogenital syndrome AgammaglobulinaemiaAlpha 1 antitrypsin deficiency Amyotrophic lateral sclerosis Angelman http://www.mgz-muenchen.de/english/leistungen.html

MGZ - Munich - Analyses About us Analyses Who is who Contacts ... Address Cytogenetics Karyotyping (pre and postnatal) Cytogenetic and molecular genetic methods in pregnancy Cytogenetic and molecular genetic methods in infertility Molecular cytogenetics: Fluorescence in situ hybridisation (FISH) ... OMIM 176270 Further diagnostics on request Employment of cytogenetic and molecular genetic methods in Oncology Molecular genetic diagnostics Achondroplasia Adrenogenital syndrome Agammaglobulinaemia Alpha 1 antitrypsin deficiency Amyotrophic lateral sclerosis Angelman-Syndrome UBE3A (when indicated) Apolipprotein B100 Apolipoprotein E Azoospermia factor Barth syndrome Coffin-Lowry-Syndrom Cystic fibrosis CFTR-mutation incl. CF-5T allele Dentatorubral pallidolysialian atrophie (DRPLA) Faktor II (prothrombin polymorphism) Faktor V (Leiden mutation) Fragile X syndrome (FraX A and FraX E) Friedreich´s Ataxia Haemochromatosis Haemophilia A Hereditary adenomatosis polyposis Hereditary colonic carcinoma (HNPCC) within a study from the German Cancer Help group Hereditary malignant melanoma HLA-typing Huntington Disease Kennedy´s Disease Li Fraumeni syndrome Methylen tetrahydrofolate reductase (MTHFR) Microsatellite analysis Mucoviszidosis Multiple endokrine neoplasia (MEN)

83. ACQ: W E B W O R D S - 5 - Caroline Bowen - VeloCardio-Facial syndrome 22q deletion, chromosome 22q11.2 deletion, Shprintzensyndrome, DiGeorge syndrome VCS VCF Educational Foundation http//www.vcfsef http://members.tripod.com/Caroline_Bowen/webwords5.htm

Home Page Contents Links A to H I to P ... Q to Z Webwords 5 FACING THE WORLD Craniofacial web resources The ACQ Internet Column: June 2000 Caroline Bowen How basic is this! Thoughts about the fundamental importance of having an intact anatomy for speech production have been running around my head for weeks. For the themes of this edition of the ACQ (the face, teeth, tongue and palate) take us directly to our speech therapy roots, making us think in the most uncomplicated of ways about the organs of speech: how they look and what they do. How basic it is when we meet new clients to start the assessment process by taking a covert but informed squiz at their faces. With a quick flash of the oral torch we invite ourselves to an inside tour of what they keep behind closed lips: you know, the teeth the fairy hasn't claimed yet, the tongue: thrusting tied , or just plain big , and the palate (I'll get to that shortly )...all that sort of thing. But sometimes the oral musculature examination is deferred when we encounter for the first time a client whose facial features, in themselves, tell us much of what we need to know, and prompt us to reach for the journals to see if there is anything helpful or new for the client and clinician regarding Treacher Collins Syndrome , Velo-Cardio Facial ( Shprintzen) Syndrome ( here Craniosynostosis , or one of the myriad of other conditions and diseases listed in the NORD databases. NORD is the only organization of its kind; a unique federation of more than 140 not-for-profit voluntary health organizations serving people with rare disabilities. Its web site receives more than 5 million hits each year and over 1 million searches of its databases are made annually.

84. Fluorescent IN SITU Hybridization (FISH) Information SmithMagenis syndrome. Steroid Sulfatase Deficiency. DiGeorge/Velo-Cardio-Facial/CATCH-22/Shprintzensyndrome. Kallman syndrome. Williams syndrome. Wolf-Hirschhorn. http://members.aol.com/chrominfo/fishinfo.htm

C Y T O G E N E T I C S Fluorescent IN SITU Hybridization (FISH) Spanish Version Fluorescent IN SITU Hybridization (FISH) is a relatively new technology utilizing fluorescently labeled DNA probes to detect or confirm gene or chromosome abnormalities that are generally beyond the resolution of routine Cytogenetics. The sample DNA (metaphase chromosomes or interphase nuclei) is first denatured , a process that separates the complimentary strands within the DNA double helix structure. The fluorescently labeled probe of interest is then added to the denatured sample mixture and hybridizes with the sample DNA at the target site as it reanneals (or reforms itself) back into a double helix. The probe signal can then be seen through a fluorescent microscope and the sample DNA scored for the presence or absence of the signal. Metaphase FISH FISH can be used in metaphase cells to detect specific microdeletions beyond the resolution of routine Cytogenetics or identify extra material of unknown origin. It can also help in cases where it is difficult to determine from routine Cytogenetics if a chromosome has a simple deletion or is involved in a subtle or complex rearrangement. In addition, metaphase FISH can detect some of the specific chromosome rearrangements seen in certain cancers. The number of microdeletion syndromes diagnosed by FISH is expanding rapidly. The sensitivity of these tests in every case is better than routine Cytogenetics but depends on the particular syndrome. In some syndromes, the probe is specific for the defective gene as in Williams Syndrome where a deletion has been shown in the elastin gene in 96% of individuals with a firm diagnosis. In other syndromes such as Prader-Willi/Angelman, the etiology of the syndrome is heterogeneous and microdeletions compose only a portion of the cases (60%).

85. S Index SHAKEN BABY syndrome. SHOPPING FOR YOUR CHILDREN. SHORT STATURE. SHPRINTZENsyndrome. SHWACHMAN syndrome. SHYDRAGER syndrome. SHYNESS. SIBLING RIVALRY. http://www.childhealthinfo.com/sindex.htm

ChildHealthInformation Center - The Online Database A B C D ... Z Please click on "safety" to view that topic. SAFETY Please click on the "box below" to view the following topics. S Part I SALAMON SYNDROME SANDHOFF DISEASE SANFILIPPO SYNDROME SARCOIDOSIS SCHEIE SYNDROME SCHIZOPHRENIA SCHOLARSHIPS SCHOOLS SCLERODERMA SCOLIOSIS SECKEL SYNDROME SEIZURE DISORDERS Please click on the "box below" to view the following topics. S Part II SELF-ESTEEM SELF-HELP SELF MUTILATION SENIORS SEPARATION AND LOSS SEPTO-OPTIC DYSPLASIA SEX EDUCATION SEXUAL ABUSE SEXUAL HARASSMENT SEXUALLY TRANSMITTED DISEASES (STD'S) Please click on the "box below" to view the following topics. S Part III SHAKEN BABY SYNDROME SHOPPING FOR YOUR CHILDREN SHORT STATURE SHPRINTZEN SYNDROME SHWACHMAN SYNDROME SHY-DRAGER SYNDROME SHYNESS SIBLING RIVALRY SICK CHILDREN (SERIOUSLY ILL) SICKLE CELL ANEMIA SINGLE PARENTS SINUSITIS SJOGREN'S SYNDROME SKIN DISEASES Please click on the "box below" to view the following topics. S Part IV SLEEP APNEA SLEEP PROBLEMS SMELL AND TASTE PROBLEMS SMITH-LEMLI-OPITZ SYNDROME SMITH-MAGENIS SYNDROME SMOKING SMOKING, PREVENTION

86. Les Cardiopathies Cono-troncales Translate this page of the heart. The authors subsequently noted similarities to Shprintzensyndrome and DiGeorge syndrome. Chromosome analysis in five http://www.bmlweb.org/catch22.html

Du syndrome de Di George à la microdélétion 22q11 Gadirou Bah *, Dominique Martin**, Vincent Flurin *Service de réanimation pédiatrique, hôpital du Mans, France. **Service de génétique, hôpital du Mans, France. Mis à jour le 12 juin 1998 Maîtres Toiles Description en par Di George de l'association: Hypoplasie thymique Hypocalcémie par agénésie des parathyroïdes. S'ajoute à cette description initiale La dysmorphie faciale Une cardiopathie type conotroncale Les cardiopathies conotroncales associées au Syndrome de Di George sont représentées essentiellement et non exclusivement par: La tétralogie de Fallot Le troncus arteriosus L'interruption de l'arche aortique. D'autres cardiopathies congénitales peuvent être observées avec le Syndrome de Di George. Shprintzen en 1978 décrit le syndrome vélocardiofacial ( VCF a été décrit par. Il associe: Fente palatine avec insuffisance vélopharyngée. Anomalie cardiaque type cono-troncale Dysmorphie faciale caractéristique.

87. VCFS This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net, www.snonet.org/vcfs/ or www.vcfsef.org. http://www.crosslink.net/~marchett/vcfs/vcfs.shtml

This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net www.snonet.org/vcfs/ or www.vcfsef.org

88. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details IV. Perform clinical studies of PraderWilli, Angelman, DiGeorge, and Shprintzensyndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V http://www.clinicaltrials.gov/ct/gui/show/NCT00004351?order=1

89. Belly Gut Stomach Belch Medical Etymology Arts Human Overview famous American medical pioneer. Osler described the PRUNE BELLY SYNDROMEwhich is a very serious BIRTH DEFECT. Osler noted that http://www.consultsos.com/pandora/in240602.htm

Classic Etymology Medicine - Mythology - Arts - Sciences Medical Etymology MedWord WordWise Genealogy Nature and Sense in Words Notes, Comments and Reflections Pandora's Word Box W. Wertelecki, M.D. Comments Requests Links to Key Word Ideas Abducent Abdomen Abdominal Exstrophy Abdominal Wall Defect ... Wiedemann Beckwith S. BELLY GUT STOMACH BELCH Following an overview of ESOPHAGUS STOMACH GASTRIC ABDOMEN and VENTRAL we focus now on the more vernacular terms BELLY and GUT. Prominent "gut". According to some authorities, BELLY arose from "bely" and is one of the most ancient "English" words. Currently this word is considered to be somewhat coarse. In any case, BELLY conveys ideas also found in BELOW and BELLOW as well as in BAG, BULGE and BUDGET. Ideas in words rarely are limited to one language. From other tongues, it is obvious that BELLY has to do with BELCH, BARK, and VOICE. An example is provided by laryngeal cancer victims who lose their vocal cords. By mastering ERUCTATION and BELCHING gastric gas through their oral cavity, such patients are able to regain some ability to verbalize. Often obesity has an early start.

90. Esophagus Stomach Gastic Gastroschisis Abdomen Ventral Medical Etymology Arts Hu Classic Etymology Medicine Mythology - Arts - Sciences Medical Etymology. http://www.consultsos.com/pandora/in030602.htm

Classic Etymology Medicine - Mythology - Arts - Sciences Medical Etymology MedWord WordWise Genealogy Nature and Sense in Words Notes, Comments and Reflections Pandora's Word Box W. Wertelecki, M.D. Comments Requests Links to Key Word Ideas Abducent Abdomen Abdominal Exstrophy Abdominal Wall Defect ... Anastomosis Bag Bark Belch Bell Belle Bellow Below Bely Belly Billow Birth Defects Bud Budding Budget Bulge Corculum Cord Cordial Cordon Core EMG Syndrome Eruct Eructation Esofago Esophagus Exomphalos Exomphalos Macrogl. S. ... Ostomy Phallos Phallus Phullon Prune Belly Syndrome Rotund Shprintzen Syndrome Stoma Stomach ... Wiedemann Beckwith S. ESOPHAGUS STOMACH GASTRIC GASTROSCHISIS ABDOMEN VENTRAL VENTRICLE OMPHALOS OMPHALOCELE Following several overviews concerned with nose, mouth, lips, pharynx and larynx, it is time to explore the ideas in ESOPHAGUS and STOMACH. Popular ideas in GUT for stomach or ""BELLY" for ABDOMEN are quite compelling and will be explored next time. Prominent in Balzac were his "ventral" prominence and the ability to vent ideas in great literary works.

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