Premium Essay

Cri Du Chat Research Paper

Submitted By
Words 1343
Pages 6
Cri du chat, also known as “Cat’s Cry” syndrome or 5p- (5 p minus) syndrome occurs when there is a deletion in chromosome 5 (Genetics Home Reference). According to the Genetics Home Reference website, most cases of Cri du Chat are not inherited. The deletion occurs randomly during production of reproductive cells or in early development. People with Cri du Chat most often have no familial history of the disease. Only about ten percent of the cases of Cri du Chat are inherited from unaffected parents. Most of the time in this situation, the parent’s chromosome is rearranged. The material is not gained or lost, but is located on different parts of the chromosome. So, when the material is moved to create gametes or chromosomes in a developing …show more content…
It affects the Central Nervous System because it causes mental delay, psychological issues (such as hyperactivity and obsessions over objects), and the muscles in the eyes cannot always focus on the same objects (so there are probably visual issues). The digestive system is also affected because there is difficulty swallowing and sucking (mostly in newborns), sometimes there are bowel abnormalities, a few babies have shown gastrointestinal abnormalities, constipation can start to occur around one to two years of age and can continue throughout the patient’s life, and sometimes the person may lack the ability to control their saliva and they drool. The skeletal system is also affected because sometimes children with Cri du Chat are born with skeletal abnormalities such as hip dislocation, cleft palette, scoliosis, some feet deformations, and some dental problems have been found. The muscular system is also affected because some children with the syndrome are born with low muscle tone (hypotonia) but could then become overly toned or highly toned (hypertonia). The cardiovascular system is affected in some cases because some patients are born with heart defects. Lastly, the respiratory system is affected in multiple ways, first, because, as previously mentioned, the child’s cry sounds like a cat, meaning there is trouble with the larynx. Another reason is that, because it is so difficult to chew and swallow, the patient may choke or cough while swallowing (this could also lead to pneumonia later in life) (Cri Du Chat

Similar Documents

Premium Essay

Cri-Du-Du-Chat Syndrome Research Paper

...Mrs. Sally Googlesnorf Liked Cats Until She Gave Birth To One Mr. and Mrs Googlesnorf gave birth to their first son to which they named Tem. Tem Googlesnorf. Tem had a problem though, a fairly rare problem. He had a disease known as Cri-Du-Chat syndrome. The Syndrome Cri-Du-Chat is French for “Cry of Cat”. It is also know as 5pMinus Disease. This is a disease found in the chromosomes of an organism when a piece of chromosome five is missing. Does Everyone Have It!? This disease is found one in every twenty to fifty thousand newborns. It is not sex linked. Are We All Going To Die? Cri-Du-Chat syndrome has about ten percent of cases that die within the first year of life, however the majority have good life expectancy. People with...

Words: 320 - Pages: 2

Premium Essay

Cri Du Chat Syndrome Research Paper

...My report is on Cri Du Chat Syndrome. I believe that this type of disease will be very interesting to learn about. This type of syndrome is French for “Cry of the Cat” Children with this condition often have a high pitched cry that sounds like a cat. Cri du Chat Syndrome can affect a male or female. Cri du Chat is one of the most common syndromes caused by a chromosomal deletion. It affects between 1 in 20,000 and 1 in 50,000 babies. Approximately 50 to 60 children are born with cri du chat syndrome in the United States each year. This type of syndrome can be found in both races. An abnormal larynx causes the unusual cat-like cry made by infants this is an sign that the child may have this syndrome. In addition to the catlike cry, individuals...

Words: 313 - Pages: 2

Free Essay

How Will the World End

...Cri du Chat Cri du chat syndrome is a rare genetic disorder which approximately affects 1 in 20,000 to 50,000 live births. The disease does not depend on ethnic backgrounds, but is most common in the case of women. The disorder gets its name from the typical cry of babies born with this syndrome. The baby sounds like a kitten, because of problems with the nervous system and larynx. The good news is that about 1/3 of kids recover by the age of 2. Negative aspects of this disease may be: * Feeding problems, because they can't suck and swallow well * Low weight at birth and poor evolution * Motor, cognitive, and speech delays * Behavioral problems such as aggression, hyperactivity, and repetitive movements * Uncommon facial traits that can change in time * What is Cri-du-Chat syndrome? The name of this syndrome is French for "cry of the cat," referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, one of the many symptoms associated with this disorder. It usually becomes less noticeable as the baby gets older, making it difficult for doctors to diagnose cri-du-chat after age two. Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm of chromosome 5. Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes known to be involved is TERT (telomerase reverse transcriptase). This gene is...

Words: 1813 - Pages: 8

Free Essay

Bic Boy Bic Boy

...chart, scissors are used to cut out each chromosome from an enlarged photo of the karyotype. Chromosome pairs are identified, and then arranged in chart form (figure 1). Numbers or letters have been assigned to specific chromosome pairs. Analysis of karyotype charts is helpful in the study of chromosome abnormalities. Figure 1: A Human Karyotype (left) and Karyotype Chart (right) Special staining techniques can reveal light and dark regions (bands) on the chromosomes. By matching the bands, it is now quite easy to identify specific chromosomes and prepare a karyotype chart (figure 2). Figure 2: A Human Karyotype Chart Using Chromosomes With Simulated Banding Materials * Sample karyotypes | * Scissors | * Unlined paper | * Transparent tape/glue | Procedure Part 1: The structure of a human karyotype chart 1. Carefully examine the human karyotype illustrated in figure 2 (previous page) a) How many rows of chromosomes are in a karyotype chart 4 rows b) Record the total number of chromosomes in the individual. 46 Chromosomes c) How many chromosome pairs are shown? There are 23 pairs shown; 22 somatic and 1 sex chromosome pair. d) What characteristic is used to give a chromosome pair a number? A special staining technique used to show the dark bands on the chromosome to pair them. Then, the size is analyzed and they are numbered from biggest to smallest. e) Which pair is not given a number? Why? The X and Y pair...

Words: 1135 - Pages: 5

Free Essay

Easy French

...Easy French STEP-BY-STEP Master High-Frequency Grammar for French Proficiency—FAST! Myrna Bell Rochester New York Chicago San Francisco Lisbon London Madrid Mexico City Milan New Delhi San Juan Seoul Singapore Sydney Toronto Copyright © 2009 by The McGraw-Hill Companies, Inc. All rights reserved. Except as permitted under the United States Copyright Act of 1976, no part of this publication may be reproduced or distributed in any form or by any means, or stored in a database or retrieval system, without the prior written permission of the publisher. ISBN: 978-0-07-164221-7 MHID: 0-07-164221-8 The material in this eBook also appears in the print version of this title: ISBN: 978-0-07-145387-5, MHID: 0-07-145387-3. All trademarks are trademarks of their respective owners. Rather than put a trademark symbol after every occurrence of a trademarked name, we use names in an editorial fashion only, and to the benefit of the trademark owner, with no intention of infringement of the trademark. Where such designations appear in this book, they have been printed with initial caps. McGraw-Hill eBooks are available at special quantity discounts to use as premiums and sales promotions, or for use in corporate training programs. To contact a representative please visit the Contact Us page at www.mhprofessional.com. TERMS OF USE This is a copyrighted work and The McGraw-Hill Companies, Inc. (“McGraw-Hill”) and its licensors reserve all rights in and to the work. Use of...

Words: 95898 - Pages: 384

Free Essay

Steve Jobs Biography

... © 2011 by Walter Isaacson Tous droits réservés. © 2011, éditions Jean-Claude Lattès pour la traduction française. Première édition novembre 2011. ISBN : 978-2-7096-3882-1 « Seuls ceux qui sont assez fous pour penser qu’ils peuvent changer le monde y parviennent. » Publicité Apple « Think Different », 1997 Table des matières Les personnages Introduction : La genèse de ce livre 1- L’enfance : abandonné puis choisi 2- Un couple improbable : les deux Steve 3- Tout lâcher : harmonie, ouverture, détachement… 4- Atari et l’Inde : du zen et de l’art de concevoir des jeux 5- L’Apple I : allumage, démarrage, connexion 6- L’Apple II : l’aube d’une ère nouvelle 7- Chrisann et Lisa : celui qui a abandonné… 8- Xerox et Lisa : les interfaces graphiques 9- Passer en Bourse : vers la gloire et la fortune… 10- Le Mac est né : vous vouliez une révolution 11- Le champ de distorsion de la réalité : imposer ses propres règles du jeu 12- Le design : les vrais artistes simplifient 13- Fabriquer le Mac : le voyage est la récompense 14- Entrée en scène de Sculley : le défi Pepsi 15- Le lancement : changer le monde 16- Gates et Jobs : quand deux orbites se croisent 17- Icare : à monter trop haut… 18- NeXT : Prométhée délivré 19- Pixar : quand la technologie rencontre l’art 20- Un homme comme les autres : Love is a four letter word 21- Toy Story : Buzz et Woody à la rescousse 22- La Seconde Venue : le loup dans la bergerie 23- La restauration : car le perdant d’aujourd’hui...

Words: 233799 - Pages: 936

Free Essay

Frnch Grammer

...grammerFrench Grammar and Usage French Grammar and Usage Second edition Roger Hawkins Senior Lecturer in Language and Linguistics, University of Essex Richard Towell Professor of French Applied Linguistics, University of Salford NATIVE SPEAKER CONSULTANT Marie-Noëlle Lamy Senior Lecturer, Open University A member of the Hodder Headline Group LONDON Contents Guide for the user Glossary of key grammatical terms Acknowledgements Acknowledgements for the second edition xi xiv xx xxi 1 Nouns 1.1 Types of noun 1.2 Gender 1.3 Number 2 Determiners 2.1 Articles 2.2 Typical use of the definite article 2.3 Typical use of the indefinite article 2.4 The partitive article: du, de l', de la, des 2.5 Use of indefinite and partitive articles after the negative forms ne... pas, ne... jamais, ne... plus, ne... guère 2.6 Omission of the article 2.7 Demonstrative determiners 2.8 Possessive determiners 3 Personal and impersonal pronouns 3.1 Subject pronouns 3.2 Object pronouns 3.3 Stressed pronouns 3.4 Demonstrative pronouns 3.5 Possessive pronouns 4 Adjectives 4.1 Adjectives modifying the noun 4.2 Adjectives which follow verbs or verbal expressions 4.3 Adjectives with complements 4.4 Indefinite and negative noun phrases with adjective complements 4.5 Adjectives used as nouns 4.6 Adjectives used as adverbs 4.7 Masculine and feminine forms of adjectives 4.8 Plural forms of adjectives 4.9 Adjective agreement with nouns 1 1 5 17 23 23 24 29 32 33 34 37 39 40 40 53 71 75...

Words: 184852 - Pages: 740

Free Essay

Whirlpool

...Employment News 11 - 17 February 2012 www.employmentnews.gov.in 21 Union Public Service Commission EXAMINATION NOTICE NO. 04/2012-CSP DATED 11.02.2012 (LAST DATE FOR RECEIPT OF APPLICATIONS : 05.03.2012) CIVIL SERVICES EXAMINATION, 2012 (Commission's website - http://www.upsc.gov.in) F. No. 1/4/2011-E.I(B) : Preliminary Examination of the Civil Services Examination for recruitment to the Services and Posts mentioned below will be held by the Union Public Service Commission on 20th May, 2012 in accordance with the Rules published by the Department of Personnel & Training in the Gazette of India Extraordinary dated 4th February, 2012. (i) Indian Administrative Service. (ii) Indian Foreign Service. (iii) Indian Police Service. (iv) Indian P & T Accounts & Finance Service, Group ‘A’. (v) Indian Audit and Accounts Service, Group ‘A’. (vi) Indian Revenue Service (Customs and Central Excise), Group ‘A’. (vii) Indian Defence Accounts Service, Group ‘A’. (viii) Indian Revenue Service (I.T.), Group ‘A’. (ix) Indian Ordnance Factories Service, Group ‘A’ (Assistant Works Manager, Administration). (x) Indian Postal Service, Group ‘A’. (xi) Indian Civil Accounts Service, Group ‘A’. (xii) Indian Railway Traffic Service, Group ‘A’. (xiii) Indian Railway Accounts Service, Group 'A'. (xiv) Indian Railway Personnel Service, Group ‘A’. (xv) Post of Assistant Security Commissioner in Railway Protection Force, Group ‘A’ (xvi) Indian Defence Estates Service, Group ‘A’. (xvii) Indian Information...

Words: 50586 - Pages: 203

Premium Essay

Personal Statement

...Subject: Successful Princeton Applicant Through all of my accomplishments and disappointments, I have always been especially proud of the dedication and fervor I possess for my personal beliefs and values. Unfortunately, it has often been difficult for me to remain outwardly firm and confident in a town where most people think alike and reject exceptions. Whenever I have expressed my position as a pro-life advocate, peers have badgered, accused, and ridiculed me for simply believing in something that they scorn. Despite all the pressure, I never waive red from my belief, yet I became frustrated and began to lose the courage to publicly express my opinion on this controversial topic. To gain some insight and reassurance for myself, I attended the New Jersey Right to Life Convention in the spring of 1995. This experience uplifted me and offered great inspiration and enlightenment. At the convention I received an overwhelming amount of support and encouragement from wonderful people who advocate the very principles I believe in. This convention was so inspiring that the next day in school I was able to relate my experience to one of my biggest opponents on the subject. Also, the abundant information available at the convention enabled me to defend my position on abortion more effectively. Attending this convention accomplished two things. It proved my commitment to my belief, in that I took the initiative to strengthen and support my opinion, refusing to give up or lose heart. Unlike...

Words: 41203 - Pages: 165

Free Essay

Thought on Business

... file:///C|/Documents%20and%20Settings/Administrator/Deskto...0BILL%20-%20BUSINESS%20AT%20THE%20SPEED%20OF%20THOUGHT.TXT indicated, artwork is by Gary Carter, Mary Feil-jacobs, Kevin Feldhausen, Michael Moore, and Steve Winard. ACKNOWLEDGMENTS I first want to thank my collaborator, Collins Hemingway, for his help in synthesizing and developing the material in this book and for his overall management of this project. I want to thank four CEOs who read a late draft of the manuscript and offered valuable thoughts on how to make it more meaningful for business leaders: Paul O'Neill, Alcoa; Ivan Seidenberg, Bell Atlantic; Tony Nicely, GEICO Insurance; and Ralph Larsen, Johnson & Johnson. Details on the use of technology by business and public agencies came from worldwide travel and research by Collins and by Jane Glasser. Barbara Leavitt, Evelyn Vasen,and Ken Linarelli...

Words: 146627 - Pages: 587

Premium Essay

Marketing

...PART ONE • UNDERSTANDING SERVICES SERVICES IN THE MODERN ECONOMY As consumers, we use services every day. Turning on a light, watching TV, talking on the telephone, riding a bus, visiting the dentist, mailing a letter, getting a haircut, refueling a car, writing a check, or sending clothes to the cleaners are all examples of service consumption at the individual level. T h e institution at which you are studying is itself a c o m p l e x service organization. In addition to educational services, today's college facilities usually include libraries and cafeterias, counseling, a bookstore, placement offices, copy services, telecommunications, and even a bank. If you are enrolled at a residential university, campus services are also likely to include dormitories, health care, indoor and o u t d o o r athletic facilities, a theater, and perhaps a post office. Customers are not always happy with the quality and value of the services they receive. People complain a b o u t late deliveries, r u d e or i n c o m p e t e n t personnel, i n c o n v e n i e n t service h o u r s , p o o r p e r f o r m a n c e , and needlessly complicated p r o cedures. T h e y grumble about the difficulty of finding sales clerks to help t h e m in retail stores, express frustration about mistakes on their credit card bills or bank statements, shake their heads over the complexity of new self-service equipment, m u t ter about p o o r value, and sigh as they are forced to wait in line almost everywhere...

Words: 190128 - Pages: 761

Free Essay

Pop Culture

...Cultural Moves AMERICAN CROSSROADS Edited by Earl Lewis, George Lipsitz, Peggy Pascoe, George Sánchez, and Dana Takagi 1. Border Matters: Remapping American Cultural Studies, by José David Saldívar 2. The White Scourge: Mexicans, Blacks, and Poor Whites in Texas Cotton Culture, by Neil Foley 3. Indians in the Making: Ethnic Relations and Indian Identities around Puget Sound, by Alexandra Harmon 4. Aztlán and Viet Nam: Chicano and Chicana Experiences of the War, edited by George Mariscal 5. Immigration and the Political Economy of Home: West Indian Brooklyn and American Indian Minneapolis, by Rachel Buff 6. Epic Encounters: Culture, Media, and U.S. Interests in the Middle East,1945–2000, by Melani McAlister 7. Contagious Divides: Epidemics and Race in San Francisco’s Chinatown, by Nayan Shah 8. Japanese American Celebration and Conflict: A History of Ethnic Identity and Festival, 1934–1990, by Lon Kurashige 9. American Sensations: Class, Empire, and the Production of Popular Culture, by Shelley Streeby 10. Colored White: Transcending the Racial Past, by David R. Roediger 11. Reproducing Empire: Race, Sex, Science, and U.S. Imperialism in Puerto Rico, by Laura Briggs 12. meXicana Encounters: The Making of Social Identities on the Borderlands, by Rosa Linda Fregoso 13. Popular Culture in the Age of White Flight, by Eric Avila 14. Ties That Bind: The Story of an Afro-Cherokee Family in Slavery and Freedom, by Tiya Miles 15. Cultural Moves: African Americans and the Politics of...

Words: 98852 - Pages: 396

Free Essay

Bush

...FAMILY OF SECRETS The Bush Dynasty, America’s Invisible Government, and the Hidden History of the Last Fifty Years RUSS BAKER Contents Foreword by James Moore 1. How Did Bush Happen? 2. Poppy’s Secret 3. Viva Zapata 4. Where Was Poppy? 5. Oswald’s Friend 6. The Hit 7. After Camelot 8. Wings for W. 9. The Nixonian Bushes 10. Downing Nixon, Part I: The Setup 11. Downing Nixon, Part II: The Execution 12. In from the Cold 13. Poppy’s Proxy and the Saudis 14. Poppy’s Web 15. The Handoff 16. The Quacking Duck 17. Playing Hardball 18. Meet the Help 19. The Conversion 20. The Skeleton in W.’s Closet 21. Shock and . . . Oil? 22. Deflection for Reelection 23. Domestic Disturbance 24. Conclusion Afterword Author’s Note Acknowledgments Notes Foreword When a governor or any state official seeks elective national office, his (or her) reputation and what the country knows about the candidate’s background is initially determined by the work of local and regional media. Generally, those journalists do a competent job of reporting on the prospect’s record. In the case of Governor George W. Bush, Texas reporters had written numerous stories about his failed businesses in the oil patch, the dubious land grab and questionable funding behind a new stadium for Bush’s baseball team, the Texas Rangers, and his various political contradictions and hypocrisies while serving in Austin. I was one of those Texas journalists. I spent about a decade...

Words: 249168 - Pages: 997

Free Essay

Elionor Ostrom

...TRABAJAR JUNTOS Acción colectiva, bienes comunes y múltiples métodos en la práctica Traducción, Lili Buj con la colaboración de Leticia Merino. Revisión técnica, Sofya Dolutskaya, Leticia Merino y Arturo Lara. Amy R. Poteete, Marco A. Janssen, Elinor Ostrom Trabajar Juntos Acción colectiva, bienes comunes y múltiples métodos en la práctica Primera edicion en inglés, 2010 Working Together: Collective Action, the Commons, and Multiple Methods in Practice de Amy R. Poteete, Marco A. Janssen, Elinor Ostrom Princeton University Press HD1289 .P75 2012 Poteete, Amy R. Trabajar juntos: acción colectiva, bienes comunes y múltiples métodos en la práctica / Amy R. Poteete, Marco A. Janssen, Elinor Ostrom; traducción Lili Buj Niles con la colaboración de Leticia Merino. --México: UNAM, CEIICH, CRIM, FCPS, FE, IIEc, IIS, PUMA; IASC, CIDE, Colsan, CONABIO, CCMSS, FCE, UAM, 2012. Incluye referencias bibliográficas 572 p.; Ilustraciones, graficas y cuadros Traducción de: Working Together: Collective Action, the Commons, and Multiple Methods in Practice. ISBN 978-607-02-3577-1 1. Recursos naturales comunes – Administración – Metodología. 2. Organización y métodos. I. Janssen, Marco A. II. Ostrom, Elinor. III. Buj Niles, Lili. IV. Merino, Leticia. V. Titulo. Este libro fue sometido a un proceso de dictaminación por académicos externos al Instituto, de acuerdo con las normas establecidas por el Consejo Editorial de las Colecciones de Libros del Instituto de Investigaciones Sociales...

Words: 156334 - Pages: 626

Free Essay

Eva Ibbotson - a Company of Swans

...A Company of Swans Chapter One There was no lovelier view in England, Harriet knew this. To her right, the soaring towers of King's College Chapel and the immaculate lawns sloping down to the river's edge; to her left, the blue and gold of the scillas and daffodils splashed in rich abundance between the trees of the Fellows' Gardens. Yet as she leaned over the stone parapet of the bridge on which she stood, her face was pensive and her feet— and this was unusual in the daughter of a professor of classics in the year 1912— were folded in the fifth position. She was a thin girl, brown-haired and brown-eyed, whose gravity and gentleness could not always conceal her questing spirit and eagerness for life. Sensibly dressed in a blue caped coat and tarn o'shanter bought to last, a leather music case propped against the wall beside her, she was a familiar figure to the passers-by: to ancient Dr. Ferguson, tottering across the willow-fringed bridge in inner pursuit of an errant Indo-Germanic verb; to a gardener trimming the edges of the grass, who raised his cap to her. Professor Morton's clever daughter; Miss Morton's biddable niece. To grow up in Cambridge was to be fortunate indeed. To be able to look at this marvelous city each day was a blessing of which one should never tire. Harriet, crumbling bread into the water for the world's most blase ducks, had told herself this again and again. But it is not cities which make the destinies of eighteen-year-old girls, it is people— and...

Words: 97572 - Pages: 391