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         Cri Du Chat Syndrome:     more detail
  1. Cri du chat syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Judith Sims, Holly, M.S. Ishmael, 2006
  2. Cri-Du-Chat Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  3. Gale Encyclopedia of Medicine: Cri du chat syndrome by Holly Ann Ishmael M.S., 2002-01-01
  4. Using Parent-Delivered Graduated Guidance to Teach Functional Living Skills to a Child with Cri du Chat Syndrome.: An article from: Education & Treatment of Children by Michael Denny, Nancy Marchand-Martella, et all 2000-11-01
  5. Cri Du Chat Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Holly, M.S. Ishmael, Rebecca, PhD Frey, 2006
  6. Cri du chat syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS, CGC Ishmael, 2005

81. SAIDA - Cri-du-Chat Support Group
A support group for parents with children with the cridu-chat syndrome was established in 1995. cri-du-chat syndrome Support Group.
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
Tel: (011) 795 1647

82. Cri-du-chat Syndrome - General Practice Notebook
cridu-chat syndrome. cri-du-chat syndrome derives its name from the weak, cat-like cry of the sufferers. It is a consequence of
Cri-du-chat syndrome Cri-du-chat syndrome derives its name from the weak, cat-like cry of the sufferers. It is a consequence of deletion from the short arm of chromosome 5 It occurs in 1 in 50 000 live births.
Click here for more information...

83. Cri-du-chat Syndrome: Clinical Profile And Prenatal Diagnosis. Tullu MS, Muranja
cridu-chat syndrome clinical profile and prenatal diagnosis. Abstract. Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies.;year=1998;volume=44;issue=4

84. Cri-du-Chat Syndrome: Toward A Behavioral Phenotype
net. cridu-chat syndrome Toward a Behavioral Phenotype Kim Cornish, Ph.D., CPsychol, David Bramble, MD Penny Standen, Ph.D. Individuals
Psych-Media of NC, Inc.
PO Box 57
Bear Creek, NC 27207
Phone: (336) 581-3700
Fax: (336) 581-3766
Email: Cri-du-Chat Syndrome: Toward a Behavioral Phenotype

Kim Cornish, Ph.D., CPsychol, David Bramble, M.D.

Ment Health Aspects Dev Disabil 2001;4(4):156-160

85. Cri-Du-Chat Syndome (5p-) - FISH Analysis
cridu-chat syndrome (5p-) FISH ANALYSIS.
FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the deletion of 5p15.2 associated with cri-du-chat syndrome. Clinical Features:
Reasons for Referral:
Patients with clinical features suggestive of cri-du-chat syndrome may be tested for a deletion of 5p15.2 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). The majority of deletions are detectable with high-resolution chromosomal analysis. Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and has been shown to have a deletion detectable by FISH. Please call regarding all prenatal samples. Testing Methodology:
FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or microduplications. FISH analysis for deletion 5p15.2 is performed on metaphase chromosomes using a commercially available probe. The presence of one hybridization signal indicates a deletion. Virtually all individuals with cri-du-chat syndrome will have a deletion identified by either high-resolution chromosome studies or FISH.


87. Cri-du-chat.html
origin of the novel ends of chromosomes 4p and 5p in a patient with the WolfHirschhorn syndrome and in 4 patients with the cri-du-chat syndrome by chromosome
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:
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

88. | Doc Online | Ask The Doctor | Infants & Children Cri-du-cha
INFANTS CHILDREN cridu-chat syndrome Posted Tue, 30 May 2000. Question. Please may I have some information about cri-du-chat syndrome? Answer.
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cardiac diseases ... skin disorders Cri-du-chat syndrome Posted Tue, 30 May 2000 Question Please may I have some information about cri-du-chat syndrome? Answer Cri-du-chat syndrome results from a deletion of part of a specific chromosome. It gets its name from the characteristic high-pitched, mewling cry resembling the mewing of a kitten, which these babies have. It is heard in the immediate new born period, lasts for a few weeks and then disappears. Children with this chromosome deletion usually have low birth weight, microcephaly (small head), asymmetric facial features. They may also have a round, so-called moon face with wide set-eyes. They may also have downward sloping eye folds, a squint and a braod-based nose. The ears are low set, abnormally shaped, often with abnormally narrow canals and skin tags in front of the ears. They also have a short neck. Heart defects are common and the babies are floppy, with little muscle tone.


90. Ingenta: Article Summary -- ''Cri-du-chat'' Syndrome In A Patient Born To A Moth
Therefore, as might have been expected, maternal paracentric inversion of chromosome 5q and cridu-chat syndrome presented by the daughter were not related

91. AFCC - Association Francophone Du Syndrôme Du Cri Du Chat - CH-1485 Nuvilly
Translate this page Association traitant de la maladie du syndrôme du cri du chat - CH-Nuvilly (FR) Suisse

92. Cri Du Chat, Maladie : Sites Et Documents Francophones
Cri du chat, maladie Menu général CISMeF Définition [MeSH Scope Note ; traduction CISMeF] : Syndrome infantile caractérisé par un cri semblable à celui des félins, un défaut de croissance, une microcéphalie, un retard mental, une quadriparésie spastiques, une micro rétrognathie, un glossoptose, un épicanthe bilatéral, un hypertelorisme, et des organes génitaux externes minuscules. Il est provoqué par une délétion du bras court du chromosome 5 (5p -).
Synonyme(s) CISMeF 5p- syndrome.
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 Ou consulter ci-dessous une sélection des principales ressources :
Qualificatifs : guide ressources
  • Délétion 5p - synonyme(s) et inclusion(s) : cri du chat, syndrome du ; monosomie 5p

93. Cri Du Chat Oireyhtymä
cri du chat. cri du chatlapsi saatta kehittyä ensimmäisten elinkuukausien aikana melko hyvin, mutta puheen kehitys on alusta asti dramaattisen heikkoa.
Kehitysvammahuollon tietopankki
Omaleimainen itku, pienikokoisuus, puheen kehittymättömyys ja kehitysvammaisuus
Cri du chat
Lejeunen oireyhtymä
Monosomia 5p
Osittainen monosomia 5p
Deleetio 5p
Cri du chat-syndrooma on harvinen useimmiten 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. 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 kiihottaa. Vaaratilanteita he eivät osaa varoa.

94. CRI-DU-CHAT - Site Map - UK Shopping Directory - UK Shops
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95. Welcome To The 5P- Society
March 2002. 5P Minus Society. About 5P syndrome. 5P- Society s Role, Homepages, Annual Conference, Key Resources, Picture Gallery, Recent Newsletter, Coming Soon.
December 2003 September 2003 June 2003 March 2003 December 2003 September 2003 June 2003 March 2003 ... March 2002

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