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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

41. Cri - Du - Chat Syndrome 5p-
Cri Du - Chat Syndrome 5p- Topics include Titles and 5p Monosomy 5p Syndrome5p- Syndrome Cat Cry Syndrome cri du chat syndrome Kromosom 5p-
http://ibis-birthdefects.org/start/criducha.htm
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... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Titles and 5p Monosomy 5p Syndrome 5p- Syndrome Cat Cry Syndrome Cri Du Chat Syndrome Kromosom 5p- Special Resources Cri - Du - Chat Syndrome 5p- A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [German] [Italian] [Japanese] [Portuguese] [Spanish] [Swedish] [Ukrainian] [*] [P] CRI - DU - CHAT SYNDROME Alternative titles; symbols CAT CRY SYNDROME from OMIM Gene Map Locus: 5p15.2 ... Cri - du - chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5 ... Majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [S] Cri - du - Chat Syndrome Support Group (Illustrated) (Great Britain) by Cri - du - Chat Syndrome Support Group Cri du Chat Syndrome ("Cry of the cat" in French) is a genetic disorder caused by the loss or misplacement of genetic material from the fifth chromosome. It was first identified in 1963 by Professor Lejeune, who also identified Downs Syndrome. He described the syndrome after the sound that many of the babies and young children make when crying …

42. Hailey - About Cri-du-chat
So what is cri du chat syndrome? cri du chat syndrome is also knownas 5P Minus syndrome, Le Jeune's syndrome and Catcry syndrome.
http://www.lanset.com/hailey/document/aboutcri.htm
So what is Cri Du Chat Syndrome?
  • Cri Du Chat Syndrome results from the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes. Cri Du Chat Syndrome is also known as 5P Minus syndrome, Le Jeune's syndrome and Cat-cry syndrome. It is a relatively rare genetic condition with an estimated incidence of 1:50,000 births. Approximately 13% result from an error in a number five chromosome in either parent. In these cases, subsequent children or relatives can also be affected and it is therefore important that all parents of children with this syndrome receive genetic counselling. Sometimes a second chromosome is involved. It is thought that more girls than boys are born with the syndrome. The critical region of the chromosome containing genes which are responsible for the main features of the syndrome appears to be located in band 5p 15.2. The gene causing the cry is thought to be located in band 15.3. This would explain why some babies with other features of the syndrome do not have the characteristic cry and some babies have the cry but not the other characteristics.

43. Health Ency.: Disease: Cri Du Chat Syndrome
Ency. home Disease C cri du chat syndrome. cri du chat syndrome. Infantswith cri du chat syndrome commonly have a distinctive catlike cry.
http://www.accessatlanta.com/shared/health/adam/ency/article/001593.html
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Ency. home Disease C Cri du chat syndrome Overview Symptoms Treatment Prevention Alternative names: Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome Definition: A group of findings that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high pitched and sounds like a cat. Causes and Risks The cri du chat syndrome is caused by the deletion of information on chromosome 5. The cause of this rare chromosomal deletion is not known, but it is expected that the majority of cases are due to spontaneous loss of a piece of chromosome 5 during development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation. Between 1 in 20,000 and 1 in 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation. Infants with cri du chat syndrome commonly have a distinctive cat-like cry. They also have an extensive grouping of abnormalities with severe mental retardation being the most important.

44. Cri Du Chat Syndrome
cri du chat syndrome. 2000/11/30. ?. . Cri Du Chatsyndrome. Present illness OPD (1). Present illness OPD (2).
http://www.vghtc.gov.tw:8082/ped/teaching/ghc/Cri Du Chat syndrome/

45. Cri Du Chat Syndrome
? 1 ? 35.
http://www.vghtc.gov.tw:8082/ped/teaching/ghc/Cri Du Chat syndrome/sld001.htm

46. Qango : Health: Diseases And Conditions: C: Cri Du Chat Syndrome
category Options Help. Home Health Diseases and Conditions C cri du chat syndrome, Suggest a Site. Health, etc. If you would
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47. Cri Du Chat Syndrome | Principal Health News
You are here Home Health A to Z cri du chat syndrome. cri du chat syndrome.Barrett, Julia. cri du chat syndrome is a very rare disorder.
http://www.principalhealthnews.com/topic/topic100586677

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You are here: Home Health A to Z Cri Du Chat Syndrome
Cri Du Chat Syndrome
Barrett, Julia
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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.

48. Health Library - Cri Du Chat Syndrome
cri du chat syndrome. cri du chat syndrome is caused by the absence of geneticmaterial (deletion) on the short arm (p) of chromosome 5. Resources.
http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

49. Chromosome 5 Disorder : Cri Du Chat Syndrome  ¤ÇÒÁ¼Ô´»¡µÔâ¤ÃâÁ
The summary for this Bihari page contains characters that cannot be correctly displayed in this language/character set.
http://www.thailabonline.com/genetic-chromosome5.htm
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50. GoGuides.Org Directory | Cri-du-Chat Syndrome
Contact a Family cri du chat syndrome Learn about this disease inwhich a cat-cry is an important early clinical diagnostic feature.
http://www.goguides.org/index.php/viewCat/14820

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    Contact a Family: Cri du Chat Syndrome
    - Learn about this disease in which a cat-cry is an important early clinical diagnostic feature. Includes the inheritance pattern, and pre-natal diagnosis.
    URL: http://www.cafamily.org.uk/Direct/c81.html Cri-du-Chat Syndrome Support Group - Offers a list of worldwide CdC groups, a chat room and a message board. Includes disease information, as well as details about the organization including conferences.
    URL: http://www.cridchat.u-net.com/ MEDLINEplus: Cri du Chat Syndrome - Offers an in-depth look at this disease, including the prognosis, complications, and a support group.
    URL: http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm
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51. Cdc /head
cri du chat syndrome It is estimated that cri du chat syndrome occurs in150 000 live births. Most people are born with 46 chromosomes.
http://members.lycos.co.uk/nutstretch/cdc.htm
Cri Du Chat Syndrome
Cri Du Chat is a genetic disorder caused by loss or misplacement of genetic material from chromosome 5. It was first identified by Professor Lejeune in 1963 when he discribed it as having a distinctive cry in early infancy. It is estimated that Cri Du Chat Syndrome occurs in 1:50 000 live births.
Most people are born with 46 chromosomes. They inherit 23 from each parent. These are paired so that we have 2 of each size chromosome and these are numbered with the largest being number 1
People who are born with Cri Du Chat Syndrome have genetic material missing from the 5th largest chromosome which is called chromosome 5.
This is a illustration of chromosome 5
When people are born with genetic material missing it means that in most cases they will function differently from what is expected.
Most people with Cri Du Chat Syndrome have some degree of physical and learning difficulty. This varies from person to person ranging from:
mild Few attend mainstream school
moderate Many achieve a range of skills such as walking, communication and basic self help skills

52. Support - Cri Du Chat - Everybody.co.nz
is based in Melbourne but provides support, information and contact to familieswho have a family member with cri du chat syndrome or other abnormality of
http://www.everybody.co.nz/support/criduchat.html
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53. Health Library Find Information On Cri Du Chat Syndrome At
Find information on cri du chat syndrome at MerckSource. Learn moreabout Cri cri du chat syndrome. Definition A group of findings
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

54. NORD - National Organization For Rare Disorders, Inc.
cri du chat syndrome. To purchase fulltext report ($7.50) Copyright 1984,1985, 1987, 1990, 1992, 1997, 1999 Synonyms of cri du chat syndrome
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cri du Chat S

55. Cri Du Chat Syndrome | Building Better Health
You are here Home Health A to Z cri du chat syndromeHealth Topics AZ cri du chat syndrome. Barrett, Julia.
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Cri Du Chat Syndrome
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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.

56. Lauren Hall's CyberHome
(click photo for larger view). Contents. Picture Gallery; Hobbies; My Friends; Bubba Brandon; cri du chat syndrome; Fun things to do on the Web; cri du chat syndrome.
http://fly.hiwaay.net/~matt/lauren/
Lauren's CyberHome
Updated 05-Feb-98 : Fixed defective link in Contents
Best viewed with Navigator 3.0 using more than 256 colors. W elcome to my CyberHome. My name is Lauren Hall and I am nine years old. I live with my mommy (Sherry) and my brother (Brandon) in Madison next to Huntsville Alabama , deep in the Heart of Dixie and home of the famous Space and Rocket Center The doctors said I was born with the Cri du Chat Syndrome. Information about this syndrome is available here via hyperlinks. One of my main purposes of having a CyberHome is to share with you what I am experiencing (or have experienced) as a child growing up with Cri du Chat . So come by for a visit in my CyberHome at anytime and enjoy some real Southern Hospitality while you are here. (click photo for larger view)
Contents

57. Cri Du Chat Syndrome
cri du chat syndrome The cri du chat syndrome Support Group Find Articles Home.View By Subject. View By Name. Search Tips. Help. Search. all magazines.
http://www.virtualmorningshow.com/connection-speed.htm

58. CRI DU CHAT SYNDROME
Pediatric Database (PEDBASE); Discipline GEN; Last Updated 7/21/98 CRIDU CHAT SYNDROME. DEFINITION A chromosomal disorder characterized
http://www.icondata.com/health/pedbase/files/CRIDUCHA.HTM
  • Pediatric Database (PEDBASE)
  • Discipline: GEN
  • Last Updated: 7/21/98
    CRI DU CHAT SYNDROME
    DEFINITION:
    A chromosomal disorder characterized by a partial deletion of the short arm of chromosome 5 resulting in a cat-like cry, failure to thrive, microcephaly, facial anomalies, and mental impairment.
    EPIDEMIOLOGY:
    • incidence: 1:50,000
    • age of onset:
      • can be detected in infancy
    • risk factors:
      • sporadic
      • F > M
      PATHOGENESIS:
      1. Background
      • first described by J. Lejeune et al. in 1963
      • also called Cat Cry Syndrome, Chromosome 5, Monosomy 5p, or Deletion 5p Syndrome
      2. Pathogenesis
      • partial deletion of the short arm of chromosome 5
        • 85% of cases are sporadic de novo deletions
        • 15% of cases represent an unequal segregation of a parental translocation
      • the size of the deletion is variable but includes:
        • 5p15.2 - region accounting for most of the phenotypes
        • 5p15.3 - critical region accounting for high-pitched cry
      • if the parental chromosomes are normal, the recurrence risk is 1%
      CLINICAL FEATURES:
      1. General Manifestations
      • 100% - failure to thrive
      • 100% - mental impairment (IQ rarely above 35)
      • 98-100% - cat-like cry (also weak or high-pitched)
      • 85% - short stature (height <3rd percentile)
      • 60-80% - infantile hypotonia +/- poor muscle tone in childhood
      • 55-65% - abnormal larynx
      • 50-72% - low birth weight ( <2,600 g)
  • 59. Bibliografia
    Translate this page P, Collins MR, Kouahou M, Coucourde G, Pastore G, Eaton-Evans J, Overhauser J. Growthcharts for cri du chat syndrome an international collaborative study.
    http://www.criduchat.it/cdc/bibliogr.htm

    Bibliografia
    Cerruti Mainardi P, Calì A, Guala A, Perfumo C, Liverani ME, Pastore G, Overhauser J, Zara F, Pierluigi M, Dagna Bricarelli F. (2000): Phenotype-genotype correlation in 7 patients with 5p/autosome translocations. Risk for carriers of translocations involving 5p. Paper presented at 50 th annual meeting, Philadelphia, October 3-7. Marinescu RC, Cerruti Mainardi P, Collins MR, Kouahou M, Coucourde G, Pastore G, Eaton-Evans J, Overhauser J. Growth charts for cri du chat syndrome: an international collaborative study. Am J Med Genet 2000; 94: 153-162. v. riassunto in italiano Perfumo C, Cerruti Mainardi P, Calì A, Coucourde G, Zara F, Cavani S, Overhauser J, Dagna Bricarelli F, Pierluigi M. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J Med Genet 2000; 37: 967-972. v. riassunto in italiano Cerruti Mainardi P, Guala A, Pastore G, Pozzo G, Dagna Bricarelli F, Pierluigi M. Psychomotor development in cri du chat syndrome. Clin Genet 2000; 57: 459-461. v. riassunto in italiano

    60. Beth's Place
    Very interesting. The day after I was born the Drs told my Mommy and Daddythat they thought I might have a condition called cri du chat syndrome.
    http://members.aol.com/Jobewonone/Beth.html
    Come on in and have a seat. I'm so glad you came by. My name is Beth and I was born on June 1, 1998. I weighed 5 lb 14.7 oz and was 19 inches long. I have an older brother, his name is Ellis. I like him most of the time, but sometimes he kisses me when I'm asleep and it makes me mad. I like to watch Ellis play and I laugh at him a lot. I roll over from my back to my tummy and then I get mad because I don't like to be on my tummy. I like to hit at the toys on my activity gym and have just started grabbing hold of a toy every now and then. Scroll on down the page and see the new pictures (last updated 1/8/99) Here I am with Dr. Rena Klarich. I am 2 days old. Dr. Klarich is my mommy's doctor, she delivered me. Mommy likes her and I do too. This is me in my hat. Mommy thinks I look really cute in it. I'm 6 month's old in this picture. This is my first cookie. Yum Yum, I like it. Here I am just being my sweet little self. Mommy says I'm precious. Hmmmmm, this is interesting. What is this thing mommy keeps putting in my face?

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