81. Heilpädagogische Forschung: Verhaltensphänotyp Des Cri-du-Chat-Syndroms Translate this page Developmental and behavioral aspects of children with cri-du-chat syndrome.cri-du-chat syndrome (Deletion 5p-syndrome) is characterized http://www.heilpaedagogischeforschung.de/ab9814.htm

Home Jahrgang 2002 Jahrgang 2001 Jahrgang 2000 ... Herausgeber Verhaltensphänotyp des Cri-du-Chat-Syndroms aus: Heilpädagogische Forschung Nr. 1 1998 Von Klaus Sarimski Das Cri-du-Chat-Syndrom (Deletion 5p-Syndrom) ist durch ein charakteristisches Gesicht, Minderwuchs, Microcephalie, eine geistige Behinderung sowie eine ungewöhnliche Qualität des Schreiens in den ersten Lebensjahren gekennzeichnet, das dem Syndrom den Namen gegeben hat. Es werden Beobachtungen bei zehn Kindern zum Verhaltensphänotyp im frühen Kindesalter mitgeteilt. Dabei wurde ein mehrdimensionaler Ansatz aus standardisierten Entwicklungstests und Elternbefragungen sowie differenzierten Analysen der Kom-munikations- und Handlungsfähigkeiten der Kinder in pädagogischen Situationen gewählt, der sich zur Beschreibung des Verhaltensphänotyps bei genetischen Syndromen bewährt hat. Die videografierten Beobachtungen eignen sich gleichzeitig als Grundlage für die Beratung der Eltern mit dem Ziel, die Fähigkeiten und positiven Entwicklungschancen ihrer Kinder wahrnehmen zu können. Developmental and behavioral aspects of children with Cri-du-Chat syndrome. Cri-du-Chat syndrome (Deletion 5p-syndrome) is characterized by a striking facial appearance, growth retardation, microcephaly, mental retardation, and an unusual cry in infancy and early childhood. Developmental observations in ten children describing the behavioral phenotype are presented using a multidimensional assessment approach including developmental tests, parental questionnaires, and analysis of videotapes to identify communicative and play abilities. Furthermore, the videotapes are useful for parent counseling in order to assist them to perceive positive abilities and developmental perspectives in their children.

82. SAIDA, Cri Du Chat A support group for parents with children with the cridu-chat syndrome was establishedin 1995. cri-du-chat syndrome Support Group PO Box 640, Honeydew 2040. http://sunsite.wits.ac.za/saida/disorder/CriDuChat.html

Cri-du-Chat (5p-) syndrome occurs in about 1 in 50 000 births. The syndrome was given its name due to the distinct high pitched, cat-like cry that affected babies have because of the abnormal development of their larynx. Affected individuals have a deletion in the short arm of chromosome 5 (part of chromosome 5 is missing) so this disorder is also sometimes called 5p- syndrome. Characteristic features of this syndrome include low birth weight and delayed growth, microcephaly (small head), downward and outward slanting eyes spaced widely apart, squints, low set ears, facial asymmetry, cleft lip and palate, heart defects, renal (kidney) abnormalities, hypotonia (floppiness) and mental disability ranging from mild to severe. A support group for parents with children with the Cri-du-Chat syndrome was established in 1995. Mrs Angela Bravi is the contact person and group coordinator. She has made contact with Cri-du-Chat syndrome support groups in Australia, UK and USA. She encourages people in South Africa and the rest of the world to contact her by mail, phone or fax so she can build up the Cri-du-Chat Syndrome Support Group Cri-du-Chat Syndrome Support Group P O Box 640

83. Cri-du-chat.html origin of the novel ends of chromosomes 4p and 5p in a patient with the WolfHirschhornsyndrome and in 4 patients with the cri-du-chat syndrome by chromosome http://www.indiana.edu/~pietsch/cri-du-chat.html

go to Shufflebrain main menu cat's cry menu Cri-du-chat (Cat's Cry) Syndrome, 1998-1999 Medline Thesaurus DEFINITION OF TERM : An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-). web contact: pietsch@indiana.edu A literature search at Indiana University, Bloomington, Indiana The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information Record 1 of 22 in MEDLINE EXPRESS (R) 1998/11-1999/01 TITLE: Chromosome healing of constitutional chromosome deletions studied by microdissection. AUTHOR(S): Vermeesch-JR; Falzetti-D; Van-Buggenhout-G; Fryns-JP; Marynen-P ADDRESS OF AUTHOR: Center for Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven (Belgium). SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1998; 81(1): 68-72 INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171 PUBLICATION YEAR: 1998 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: SWITZERLAND MEDLINE ACCESSION NUMBER: 98358149 UPDATE CODE: 9812 Record 2 of 22 in MEDLINE EXPRESS (R) 1998/11-1999/01 TITLE: A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. AUTHOR(S): Flaherty-L; Moloney-J; Watson-N; Robson-L; Bousfield-L; Smith-A ADDRESS OF AUTHOR: Department of Cytogenetics, New Children's Hospital, Westmead, New South Wales, Australia. SOURCE (BIBLIOGRAPHIC CITATION): J-Intellect-Disabil-Res. 1998 Jun; 42 ( Pt 3): 254-8 INTERNATIONAL STANDARD SERIAL NUMBER: 0964-2633 PUBLICATION YEAR: 1998

84. Structural Abnormalities: Deletions (Cri Du Chat) And Duplications (Pallister Ki What is cri du chat? cri du chat or cat cry syndrome is found in approximately50 to 60 children each year born in the United States. http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/structur.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics Medical Genetics Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) What are structural chromosome abnormalities? Structural chromosome abnormalities occur when there is a change in the structure or components of a chromosome. The total number of chromosomes is usually normal (46 total per cell). Structural chromosome abnormalities occur when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part. Ultimately, this leads to having too much or too little genetic material, which is a cause of some birth defects. Each chromosome has many segments which are usually divided into a "short arm" and a "long arm" of the chromosome. The short arm which is the upper half of the chromosome, is known as the "p arm" and the long arm, which is the lower half of the chromosome, is the "q arm." What are deletions?

85. Links Translate this page Associazioni cri-du-chat nel mondo. Inghilterra The cri-du-chat syndrome SupportGroup. Sud Africa South African Virtual cri-du-chat syndrome Support Page. http://www.criduchat.it/cdc/iworld.htm

Associazioni Cri-du-chat nel mondo Inghilterra: The Cri-Du-Chat Syndrome Support Group Canada: 5p- Society Sud Africa: South African Virtual Cri-du-Chat Syndrome Support Page Spagna: Asociaciòn Nacional Afectados por el Sindrome del Maullido del Gato Svezia: Svenska Cri Du Chat Sällskapet Australia: Australian Support Group Svizzera: Association Francophone du Syndrome du Cri du Chat Associazioni che si occupano di Handicap ANMIC Associazione Nazionale Mutilati e Invalidi Civili Ha il fine di rappresentare e tutelare in Italia gli interessi morali ed economici dell'intera categoria degli invalidi civili. Centro Risorse Handicap del Comune di Bologna www.handybo.it Associazione centro documentazione handicap www.accaparlante.it Il portale INAL per il modo della disabilità www.superabile.it Altri siti Dr. Angelo Luigi Sangalli L'inserimento dei bambini affetti dalla sindrome del Cri du Chat nella scuola dell'obbligo Lauren's CyberHome Con il patrocinio del Comune di S. Casciano in Val di Pesa

86. Medical Genetics - Structural Abnormalities: Deletions (Cri Du Chat) And Duplica What is cri du chat? cri du chat or Cat Cry syndrome is found in approximately50 to 60 children each year born in the United States. http://www.chkd.org/Genetics/structur.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) What are structural chromosome abnormalities? Structural chromosome abnormalities occur when there is a change in the structure or components of a chromosome. The total number of chromosomes is usually normal (46 total per cell). Structural chromosome abnormalities occur when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part. Ultimately, this leads to having too much or too little genetic material, which is a cause of some birth defects. Each chromosome has many segments which are usually divided into a “short arm” and a “long arm” of the chromosome. The short arm which is the upper half of the chromosome, is known as the “p arm” and the long arm, which is the lower half of the chromosome, is the “q arm”.

87. Professor Kim Cornish - Division Of Psychiatry, School Of Community Health Scien Cornish KM, Bramble D Munir F and Pigram J (1999) Cognitive functioningin children with typical cridu-chat syndrome. Developmental http://www.nottingham.ac.uk/psychiatry/staff/k_cornish.html

Text only Professor Kim Cornish BSc (Hons) in Psychology (Lancaster); PhD in Neuropsychology (London); CPsychol Developmental Psychiatry Division of Psychiatry E Floor, South Block Queens Medical Centre Nottingham +44 (0)115 924 9924 ext kim.cornish@nottingham.ac.uk Personal Information Research awards and scholarships: The Wellcome Trust Sir Jules Thorn Medical Trust PPP Medical Healthcare Trust NHS Executive (Trent) University of Nottingham Current research funding: £381,123 Research interests: Identifying patterns of neuropsychological functioning in developmental disorder with a special interest in behavioural phenotypes (e.g. Fragile-X syndrome), Attention Deficit/Hyperactivity Disorder (ADHD) and early-onset psychosis To bring together the findings from functional magnetic resonance imaging (fMRI), molecular genetics and neuropsychology as a means of determining the processes involved in the brain-behaviour-molecular correlates in developmental disorder Laterality and anomalies of handedness External collaborations include MR Centre (School of Physics, University of Nottingham), Centre for Medical Genetics (including molecular genetics) (City Hospital, Nottingham), Wellcome Department of Cognitive Neurology (London), Department of Psychology (University College London) and various European and US collaborations.

88. Cri Du Chat, Maladie : Sites Et Documents Francophones http://www.chu-rouen.fr/ssf/pathol/criduchatmaladie.html

Cri Du Chat, Maladie Menu général CISMeF Voir aussi retard mental Arborescence(s) cri du chat, maladie cri-du-chat syndrome maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Maladie : Délétion 5p - synonyme(s) et inclusion(s) : cri du chat, syndrome du ; monosomie 5p [Par Dr Turleau C. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 1998 ; visité le : 19/12/2000]. mots clés : * cri du chat, maladie cri du chat, maladie diagnostic type(s) : guide ressources texte association patients patient Association francophone du Cri du chat ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 27/03/2001].

89. CDC Cri-du-chat cridu-chat syndroom hulpsite Home. Hier vind je een paar doorklikjesnaar websites met soortgelijke inhoud in andere talen. http://users.pandora.be/criduchat/links.htm

CDC Kenmerken Verwachtingen cri-du-chat syndroom hulpsite Home Hier vind je een paar doorklikjes naar websites met soortgelijke inhoud in andere talen. Medische info Getuigenissen In de kijker Forum Links Contact Cri-du-chat Syndrome Global Support Group Cri Du Chat Support Group of Australia Association Francophone Du Syndrome Du Cri Du Chat Förderverein für Kinder mit Cri-du-Chat-Syndrom cri du chat video Cri Du Chat Support Group of Australia

90. Cri Du Chat cri du chat. Caused by deletion on short arm of chromosome 5. Clinical manifestationincludes Mental retardation. Microcephaly. Hypertelorism. Characteristic cry. http://www.psychejam.com/cri_du_chat.htm

91. Cri Du Chat Oireyhtymä cri du chat. cri du chatsyndrooma on hyvin harvinen vaikeaan tai syvään kehitysvammaisuuteenjohtava sairaus, joka johtuu 5. kromosomin deleetiosta. http://www.saunalahti.fi/kup/syndroma/cridu.htm

Kehitysvammahuollon tietopankki Lejeunen oireyhtymä Monosomia 5p Osittainen monosomia 5p Deleetio 5p Cri du chat Cri du chat-syndrooma on harvinen vaikeaan tai syvään kehitysvammaisuuteen johtava oireyhtymä, joka johtuu 5. kromosomin deleetiosta (geenikarttamerkintä 5p15.2). Siinä kyseisen kromosomin lyhyestä haarasta puuttuu kromosomiainesta. Oireyhtymän tunnusmerkkinä on vauvaiän kissan nau'untaa muistuttava itku, mistä sen ranskankielinen nimityskin johtuu. Muita piirteitä ovat pienikokoisuus, pienipäisyys ( mikrokefalia ), pyöreät kasvot, etäällä toisistaan sijaitsevat silmät, silmäkulmapoimut, alaleuan pienikokoisuus, matalalle asettuneet korvat ja olemuksen velttous. Vanhempana kasvojen pyöreys muuttuu soikiomaiseksi, jopa kapeanlaiseksi ja toisinaan epäsymmetrisyydeksi. Silmäkulmapoimut pienenevät. Ääni muuttuu normaalimmaksi jo vauvavaiheen jälkeen. Puhe ei kehity Cri du chat-lapsi saatta kehittyä ensimmäisten elinkuukausien aikana melko hyvin, mutta puheen kehitys on alusta asti dramaattisen heikkoa. Kävely näyttää jäävän aina jossain määrin puutteelliseksi. Myös kuolaaminen on tavallista. Tunne-elämältään Cri du chat-henkilöt vaikuttavat kontaktinhaluisilta ja koskettamisesta nauttivilta ihmisiltä. Rauhalliset äänenpainot ja hyväksyvä asenne rauhoittavat heitä, rauhattomuus taas kiihoittaa. Vaaratilanteita he eivät osaa varoa.

92. ISABELLA Translate this page Isabella Goltara Mayo Lopes, nasceu em 12 de fevereiro de 1992 Portadora de uma sindromemuito rara chamada Sindrome Do cri du chat ( Sindrome do Miado do Gato http://intermega.com.br/ggoltara/criduchat.html

ISABELLA UMA FILHA MUITO ESPECIAL Isabella Goltara Mayo Lopes, nasceu em 12 de fevereiro de 1992 Portadora de uma sindrome muito rara chamada Sindrome Do Cri Du Chat ( Sindrome do Miado do Gato). Isabella hoje com oito anos , ainda não fala e esta começando a dar os primeiros passos com nossa ajuda. Acompanhada por Fisioterapia , muito estimulo e muito amor, Isabella tem atingido um desenvolvimento gratificante. Vive cercada de seus brinquedos preferidos , gostando também de musica e da Companhia de sua Irmã Glória. Participamos de um encontro com a presidente da Associação Bambine do Cri Du Chat em Firenze na Italia. Este encontro nos deu varias e valiosas informações. Gostariamos de manter contato com Pais de outras crianças portadoras da mesma sindrome, com o abjetivo de juntos promovermos um melhor desenvolvimento de nossos filhos. E Também com a finalidade de fundar no Brasil uma Associação para atender as necessidades de nossas amadas crianças. Um Poema ao Nossos queridos filhos especiais Deus envia seus pequenos anjos De muitas formas e disfarces.

93. Welcome To The 5P- Society September 2002 Newsletter corrections. About 5P syndrome, 5P- Society's Role,Homepages, Annual Conference, Key Resources, Picture Gallery, Recent Newsletter, http://www.fivepminus.org/

September 2002 Newsletter corrections. September 2002 Newsletter corrections.

94. ÊÒ¢ÒªÕÇÇÔ·ÂÒ Ê¶ÒºÑ¹Êè§àÊÃÔÁ¡ÒÃÊ͹ÇÔ·ÂÒÈÒ� The summary for this Bihari page contains characters that cannot be correctly displayed in this language/character set. http://www.ipst.ac.th/biology/vol2.html

Evolution ã¹ËÑÇ¢éÍ Genetics and Evolution «Öè§ÁÕËÑÇ¢éÍÂèÍ´ѧ¹Õé DNA and Chromosomes, Mitosis and Cells, Variation and Mendel's Laws, Other Sources of Genetic Variation áÅÐ Natural Section ÁÕÀÒ¾»Ð¡Íº¤Ó͸ԺÒ Concept of Variation ¨Ò¡ encyclopedia article from Britannica. com ¹Í¡¨Ò¡¹ÕéÂѧÁÕ¡Ò·ÓÅÔ§¤ìä»ÂѧËÑÇ¢éÍÍ×è¹æ ·Õèà¡ÕèÂÇ¢éͧ´éÇ ¤ÇÒÁËÁÒ¢ͧ Phenotype and Genotype áÅÐٻẺ¢Í§¡Òà¡Ô´ Variation Variations on Mendel Genetics ÊØ»à×èͧà¡ÕèÂǡѺ§Ò¹¢Í§ Mendel ¡ÒÈÖ¡ÉÒáÅЧҹ·´Åͧ¢Í§ Mendel à¡ÕèÂǡѺ¡Ò¼ÊÁ¶ÑèÇÅѹàµÒ ¤Ó͸ԺÒÂà¡ÕèÂǡѺ§Ò¹·´Åͧ ¤ÇÒÁËÁÒ¢ͧ Gene, Alleles, Genotype, Segregation, Independent Assortment, Incomplete Dominance, Epistasis, Pleiotropy, Environmental Effects of Phenotype, Discontinuous Variation, Continuous Differences, Chromosomal Theory áÅÐÁÕÅÔ§¤ìä»Âѧ web ·Õèà¡ÕèÂǡѺ Mendelian Genetics Mendel: Experiment 1 ÀÒ¾áÊ´§§Ò¹·´Åͧ¢Í§ Mendel »Ð¡Íº¤Ó͸ԺÒ Graphics Gallery ÇÁËÑÇ¢éÍá¼¹ÀÒ¾·Õèãªé㹡ÒÊ͹ªÕÇÇÔ·ÂÒ »Ð¡Íº¤Ó͸ԺÒ â´ÂÁÕËÑÇ¢éÍãË­èæ ¤×Í From Gene to Function, Building Blocks, Chromosomes and Cell Division, Biological Engineering, Genetics, Viruses, áÅÐ Cell Processes â´ÂáµèÅÐËÑÇ¢éÍÁÕá¼¹ÀÒ¾»Ð¡Íº¤Ó͸ԺÒÂÁÒ¡¡ÇèÒ 10 á¼¹ÀÒ¾ ***** Pea Soup: The Story of Mendel â´Âáºè§à»ç¹ 5 Êèǹ ¤×Í A Brief Biography of Mendel, Mendel's Discoveries, Interactive Pea Experiment, Bibliography, áÅÐ Glossary of Terms ã¹Êèǹ¢Í§ Interactive Pea Experiment ¨ÐãËé Source Code ¢Í§ Program ÁÒãËéÊÓËѺ¡Ò»Ñºáµè§á¡éä¢à»ç¹ä»µÒÁÅѡɳзÕèµéͧ¡Òä´é *****

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