61. First Months Of Drug Therapy In A Cri-du-chat Case (cromosomopathy 5) Discussion. cri du chat syndrome is associated with a deletion on the shortarm of chromosome 5. It has an incidence of 1/50,000 in newborn infants. http://www.stress-cocchi.org/genetics3.htm

(Italian translation) FIRST MONTHS OF DRUG THERAPY IN A CRI-DU-CHAT CASE Renato COCCHI, neurologist and medical psychologist. Abstract It is reported a case of Cri-du-chat syndrome in a male child aged 4 years and 6 months at first consultation, with chromosomal diagnosis as 46, XY, ish del (5), t (3:5) (p. 25.3; p.14.3) mat. Among other symptoms, he showed mental retardation and language retardation, being only able to utter wordless sounds. Having found several symtoms linked to some brain neurotrasmitters, namely GABA, glutamate, serotonin, acetylcholine, noradrenalin, a drug therapy acting on them has been attempted. This is first three months report where some improvements were noted Key words: Stress Cri-du-chat syndrome; mental retardation; drug therapy. We use the operative definition of stress set on the index page of this WEB site. Then the following report cannot surprise anybody, because it is the logical consequence of it. I wrote there: We term stress a set of relations linking external or internal stressors of physical, chemical, biological / metabolic, and psychological / social origin to nonspecific reactions of a living organism. These reactions come out from the homeostasis' modification elicited by the stressor or stressors, and act as a common final pathway. Among the consequences of this assumption I pointed out: 1. Any internal biological / metabolic modification capable to disrupting homeostasis can cause stress reactions.

62. Duchenne Muscular Distrophy.... 1995 Translate this page Titre/Title, cri du chat syndrome. Editeur/Editor, MacKeith Press.Lieu/Place, London, UK. Date, 1995. Collation/Series, p.102-04. http://www.cidg.com/~marienf/k/i/n/m003093.htm

# Mono.: S0002793 Cote/Call Number Auteur/Author Udwin, Orlee Dennis, Jennifer Titre/Title Duchenne muscular distrophy. Editeur/Editor MacKeith Press Lieu/Place London, U.K. Date Collation/Series p.110-12 Descripteurs/Descriptors Dystrophie musculaire de Duchenne Phenotype comportemental ClinColl.: Clinics in Developmental Medicine, No 138 Demande par courrier Type de demande: < Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

63. Cri Du Chat Syndrome | BluePrint For Health You are here Home Health A to Z cri du chat syndrome. cri du chat syndrome.Barrett, Julia. Dr. Jerome Lejeune first described cri du chat syndrome in 1963. http://blueprint.bluecrossmn.com/topic/topic100586677

Search COMPLEMENTARY CARE Acupuncture Massage therapy Fitness centers ... SITE AWARDS You are here: Home Health A to Z Cri Du Chat Syndrome Cri Du Chat Syndrome Barrett, Julia Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Cri du chat syndrome occurs when a piece of chromosomal material is missing from a particular region on chromosome 5. Individuals with this syndrome have unusual facial features, poor muscle tone(hypotonia), small head size (microcephaly), and mental retardation. A classic feature of the syndrome is the cat-like cry made by infants with this disorder. Description Dr. Jerome Lejeune first described cri du chat syndrome in 1963. The syndrome is named for the cat-like cry made by infants with this genetic disorder. Cri du chat means "cry of the cat" in French. This unusual cry is caused by abnormal development of the larynx (organ in the throat responsible for voice production). Cri du chat syndrome is also called "5p minus syndrome" because it is caused by a deletion, or removal, of genetic material from chromosome 5. The deletion that causes cri du chat syndrome occurs on the short or "p" arm of chromosome 5. This deleted genetic material is vital for normal development. Absence of this material results in the features associated with cri du chat syndrome. A high-pitched mewing cry during infancy is a classic feature of cri du chat. Infants with cri du chat also typically have low birth weight, slow growth, a small head (microcephaly) and poor muscle tone (hypotonia). Infants with cri du chat may have congenital heart defects. Individuals with cri du chat syndrome have language difficulties, delayed motor skill development, and mental retardation. Behavioral problems may also develop as the child matures.

64. The Health Library — Genetics And Birth Defects Cornelia de Lange SyndromeOMIM, NCBI. cri du chat syndrome. What is Cri du ChatSyndrome?Cri du Chat Support Group of Australia. Cridu-Chat SyndromeOMIM, NCBI. http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics4.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 1 Page 2 Page 3 Page 5 Chromosome Disorders and Other Multiple Abnormalities Chromosomal Abnormalities:March of Dimes Introduction to Chromosome Abnormalities:Chromosome Deletion Outreach Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Genes and Disease:Angelman Syndrome:NCBI Angelman Syndrome:GeneReviews, University of Washington Beckwith Wiedemann Syndrome Questions and Answers About Living With Beckwith-Wiedemann Syndrome:National Cancer Institute Info for New Families:Beckwith Wiedemann Support Network Beckwith-Wiedemann Syndrome:GeneReviews, University of Washington Bloom Syndrome Bloom's Syndrome:Jewish Genetic Diseases Bloom Syndrome:OMIM, NCBI Cornelia de Lange Syndrome FAQs About CdLS:Cornelia de Lange Syndrome Foundation Treatment Protocols for CdLS:Cornelia de Lange Syndrome Foundation Cornelia de Lange Syndrome:OMIM, NCBI Cri du Chat Syndrome What is Cri du Chat Syndrome?:Cri du Chat Support Group of Australia

65. Directory Of Genetic Support Groups Online: C-D cri du chat syndrome Support Group (Culcheth, England), 5p Society 'Cri du Chatsyndrome', cri du chat syndrome. cri du chat syndrome Support Group - UK, http://www.mostgene.org/support/c-d.htm

Directory of Online Genetic Support Groups C-D The inclusion of any resource or link in MoSt GeNe does not imply endorsement. They are provided for educational purposes only. Consult with your health care provider regarding how any educational information found on the Internet may apply to your own situation. - C - Cancer National Cancer Institute American Cancer Society National Childhood Cancer Foundation Candlelighters Childhood Cancer Foundation ... Y-ME Breast Cancer Information and Support National Alliance of Breast Cancer Organizations FORCE: Facing Our Risk of Cancer Empowered - for individuals with an increased risk for breast and/or ovarian cancer Carbohydrate Deficient Glycoprotien Syndrome Society Cardio-Facio-Cutaneous Syndrome Foundation United Cerebral Palsy Associations Cerebrocostomandibular Syndrome Support Group Charcot-Marie-Tooth (CMT) CMTnet CMT International Charcot-Marie-Tooth Association Carnitine Palmitoyl Transferase Deficiency ... CHARGE Syndrome Foundation Chromosome Abnormalities Chromosome Deletion Outreach Chromosome 4 Wolf-Hirschorn Syndrome 4p- Parent Network Homepage Chromosome 5 Cri du Chat syndrome Support Group (Culcheth, England)

66. Cri Du Chat Syndrome | Vhihealthe . Dr. Jerome Lejeunefirst described cri du chat syndrome in 1963. The syndrome is......cri du chat syndrome. this disorder. http://www2.vhihealthe.com/topic/topic100586677

You are here: Home Health A to Z Cri Du Chat Syndrome Barrett, Julia Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Cri du chat syndrome occurs when a piece of chromosomal material is missing from a particular region on chromosome 5. Individuals with this syndrome have unusual facial features, poor muscle tone(hypotonia), small head size (microcephaly), and mental retardation. A classic feature of the syndrome is the cat-like cry made by infants with this disorder. Description Dr. Jerome Lejeune first described cri du chat syndrome in 1963. The syndrome is named for the cat-like cry made by infants with this genetic disorder. Cri du chat means "cry of the cat" in French. This unusual cry is caused by abnormal development of the larynx (organ in the throat responsible for voice production). Cri du chat syndrome is also called "5p minus syndrome" because it is caused by a deletion, or removal, of genetic material from chromosome 5. The deletion that causes cri du chat syndrome occurs on the short or "p" arm of chromosome 5. This deleted genetic material is vital for normal development. Absence of this material results in the features associated with cri du chat syndrome. A high-pitched mewing cry during infancy is a classic feature of cri du chat. Infants with cri du chat also typically have low birth weight, slow growth, a small head (microcephaly) and poor muscle tone (hypotonia). Infants with cri du chat may have congenital heart defects. Individuals with cri du chat syndrome have language difficulties, delayed motor skill development, and mental retardation. Behavioral problems may also develop as the child matures.

67. Cri Du Chat Syndrome .......cri du chat syndrome. Definition cri du chat syndrome degrees of mental retardation.cri du chat syndrome is a very rare disorder. http://www.chclibrary.org/micromed/00044350.html

Main Search Index Definition Description Causes ... Resources Cri du chat syndrome Definition Cri du chat syndrome arises from the absence of a particular portion of chromosome 5. The absence of genetic material is called a deletion. Children born with this deletion in chromosome 5 have a characteristic mewing cry as newborns that is thought to be caused by abnormal development of the larynx (the organ containing the vocal chords). For this reason, the disorder is called cri du chat (or cat's cry) syndrome. In reference to the deletion and the area where it occurs, the disorder is also called 5p- (5 p minus) syndrome. Children with this syndrome have physical abnormalities, language and motor skill difficulties, and varying degrees of mental retardation . Cri du chat syndrome is a very rare disorder. Description The original genetic material is arranged into 23 pairs of chromosomesone set of 23 chromosomes is inherited from each parent. Using a microscope, distinct chromosomes can be seen at a certain point in a cell's life cycle. When treated with certain stains, each chromosome bears a typical banding pattern, reminiscent of the stripes on a tabby cat's tail. Using each chromosomes' unique size and banding pattern, chromosomes 1-22 and the sex chromosomes, X and Y, can be identified exactly. Although all individuals have two copies of chromosome 5, the normal chromosome does not compensate for the genetic material missing from the flawed chromosome. The deletion can be inherited through generations of a family or it may appear at random. It has been estimated that the syndrome occurs in 1 in 50,000 births. According to the 5p- Society, approximately 50-60 children are born with cri du chat syndrome each year in the United States.

68. Mindy's Page Welcome to Mindy's site about living with cri du chat syndrome. We would love tohear from other families who have an adult member with cri du chat syndrome. http://margchristie.tripod.com/mindyscdcsite/

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Mindy's Page Links to favourite sites Disability and Diabetes History Holiday Photos ... Family and Friends Welcome to Mindy's site about living with cri du chat syndrome. Mindy is 28 years old and lives in Australia. We would love to hear from other families who have an adult member with cri du chat syndrome. I would like to use this site to tell you about Mindy's achievements, interests and more. So many more parents of adult children with cri du chat syndrome are looking around the internet for information which wasn't available when their child was born. I hope they will read about Mindy and find some points of familiarity, some experiences with which they can identify. I will gradually add more information and stories, as well as lots of favorite links to other sites (especially ones that have something to do with cri du chat syndrome). I won't go into great detail about Mindy's early years, in part because it is such a long time ago that I don't remember very much, but mostly because so very many more things are now known about children's development, including those with special needs, that our early experience would be of limited use to parents today. There are many wonderful sites on the web by parents of babies and young children with cri du chat syndrome. For links to these check out Jeff's list on the UK site.

69. Chromosomal Autoradiography In The Cri Du Chat Syndrome Chromosomal Autoradiography in the cri du chat syndrome. The aberrant memberof Group 45 in the cri du chat syndrome has been called a No. http://www.fondation-jerome-lejeune.asso.fr/Content/Chercher/Documentation/artic

70. Cri Du Chat Syndrome cri du chat syndrome. by Molly and Becky. Return to PowerPoint PageClick here to start. Table of Contents. cri du chat syndrome. http://www.timolson.com/PowerPoint/Criduchat 1/criduchat!!!/

Cri du Chat Syndrome by Molly and Becky Return to PowerPoint Page Click here to start Table of Contents Cri du Chat Syndrome History of Cri du Chat Syndrome Other historical facts... What are the chances of getting Cri du Chat? ... Bibliography Author: OOJH Email: tolson@sd68.k12.il.us Home Page: http://www.timolson.com Other information: Created in Teen Health 8 Download presentation source

71. Cri-du-Chat Welcome to the South African Virtual cridu-chat syndrome SupportPage. The purpose of this page is to provide support to South http://cjh.virtualave.net/cri-du-chat/

Matchmaker.com: Sign up now for a free trial. Date Smarter! Home [ Cri-du-Chat ] Links Overview Support Stories ... Image Creations Welcome to the South African Virtual Cri-du-Chat Syndrome Support Page. The purpose of this page is to provide support to South African parents (and parents from other countries) with children diagnosed as Cri-du-Chat syndrome patients. This page is not maintained by medical professionals, but by parents who believe that they can make a difference to the quality of the lives of their children. Of course, we will always welcome contributions by medical professionals. There is still a lot of work that needs to be done on these pages. We would like to start by inviting the following people to contribute to this site: Anybody who knows anybody (who knows anybody) diagnosed as Cri-du-Chat Get them to get in contact with us. South African parents of Cri-du-Chat children Tell us your stories - the good times and the bad times. Give us your contact detail. We also would like to know about your children: Ages, what therapy they receive, progress, etc. Administrators and members of current support groups in South Africa.

72. Cri-Du-Chat Syndrome cridu-chat syndrome Support Group. CDC Home Page Message board Guestbook Photogallery Other homepages Worldwide CDC Groups chatroom Archives - 1999. http://www.virtualnurse.com/chat/Cri-Du-Chat/archives/archives.htm

Cri-Du-Chat Syndrome Support Group CDC Home Page Message board Guestbook Photo gallery ... Worldwide CDC Groups Chatroom Archives - 1999 26 March to 13 May 13 May to 1 June 1 June to 17 June 17 June to 25 June ... 28th Dec to 21 Jan 2000 Chatroom hosted by VirtualNurse

73. Info For Students Students .. If you are writing a report on cridu-chat syndromethen this page is for you! If What is cri-du-chat syndrome? (CDC http://members.tripod.com/~yenial/students.html

Students...... If you are writing a report on Cri-Du-Chat Syndrome then this page is for you! If you have any more questions, please feel free to email me but please check the FAQ'S first . Please note that this is my personal experience of Cri-Du-Chat Syndrome, from observations of my son and the many others that I have met, and information I have read. It is not based on any scientific fact. What is Cri-Du-Chat Syndrome? (CDC) CDC is a chromosomal abnormality which results in learning difficulties. Most children will have severe learning difficulties, though some are only mildly affected. It is estimated that CDC affects 1:50 000 people world-wide. It was discovered by Dr Lejeune in France in 1963, and he gave the syndrome the name "cat cry" due to the characteristic cry of newborns which is not unlike the mewing of a kitten. Genetics All of us have 46 chromosomes in our cells, 23 from our mother, 23 from our father. Errors can occur when cells are dividing and chromosomes can break, and/or attach in the wrong place. These errors are extremely common - they are a normal part of nature which allows a species to change and evolve. Most miscarriages are caused by a chromosomal error which is not compatible with life. CDC is caused by genetic material being lost from the short arm of the 5th (5th largest) chromosome. It is not the fault of either parent, and most cases come out of the blue, only about 20% of cases are inherited due to a balanced translocation (material from one chromosome has become attached to another) in the chromosomes of one of the parents. People with balanced translocations are perfectly normal as no genetic material is lost, so they probably will not know that they are carriers until they have an affected child, unless there is a history of the CDC in the family.

74. What If We Have Missing Pieces Of Chromosomes? Here are some examples of chromosome deletions cridu-chat syndrome. cri-du-chatsyndrome is seen in approximately 1 in 50,000 live births. William's syndrome. http://gslc.genetics.utah.edu/units/disorders/karyotype/deletions.cfm

75. EMedicine - Cri-du-chat Syndrome : Article By Harold Chen, MD, MS, FAAP, FACMG cridu-chat syndrome - In 1963, Lejeune et al described a syndrome of multiplecongenital anomalies, mental retardation, microcephaly, abnormal face, and a http://www.emedicine.com/PED/topic504.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Cri-du-chat Syndrome Last Updated: November 21, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: cat cry syndrome, chromosome deletion 5p syndrome, monosomy 5p syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Harold Chen, MD, MS, FAAP, FACMG , Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association American Society of Human Genetics , and Teratology Society Editor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

76. 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 http://www.mhaspectsofdd.com/abstracts/Vol4Num4/5.htm

Psych-Media, Inc. PO Box 57 Bear Creek, NC 27207 Phone: (336) 581-3700 Fax: (336) 581-3766 Email: mhdd@emji.net 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

77. Cri Du Chat, Maladie : Arborescences MeSH Translate this page chromosome X fragile, syndrome C10.597.606.643.300 page CISMeF du motclefcri du chat, maladie C10.597.606.643.180 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navicriduchatmaladie.html

Cri Du Chat, Maladie : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies manifestations neurologiques manifestations neuro-comportementales retard mental ... Zellweger, syndrome 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

78. Cri-du-Chat He researched this on the web. What is cridu-chat syndrome? A karyotypeof an individual with cri-du-chat syndrome is shown to the right. http://thibs.menloschool.org/~sweaglesw/cridc/main.html

Cri-du-Chat Webpage by Woodley Note: the author is NOT an expert on this subject. He researched this on the web. What is Cri-du-Chat Syndrome? In this rare syndrome, part of the 5th chromosome is deleted or misplaced. A karyotype of an individual with cri-du-chat syndrome is shown to the right. The syndrome gets its name from the fact that children with this defect generally have a cry similar to that of a cat (cri-du-chat means cry of cat in French). J. Lejeune and a group of other scientists first discovered it in 1963, describing the syndrome in their document "Trois ca de deletion partielle du bras court d'un chromosome 5". So what does it do? Cri-du-chat syndrome's prime affects are a learning disability and a handful of physical characteristics, including: Low weight at birth Weak muscles Small, rounded head/face Short stature Small chin and long nose Children also typically have delayed development of motor facilities; for example, some children will have difficulty with chewing or writing. In addition, many CDC children wont learn to speak until significantly after other children (although most will learn eventually). Although older sources tend to say that CDC children die very young, affected individuals generally have a relatively normal life span. Source: http://members.tripod.com/~yenial/students.html

79. Cri-du-chat Syndrome - General Practice Notebook medical information from General Practice Notebook. cridu-chat syndrome. cri-du-chatsyndrome derives its name from the weak, cat-like cry of the sufferers. http://www.gpnotebook.co.uk/cache/335937541.htm

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...

80. Cri Du Chat Translate this page ASSOCIATION FRANCOPHONE du syndrome du cri du chat. http://www.criduchat.ch/

ASSOCIATION FRANCOPHONE DU SYNDROME DU CRI DU CHAT

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