81. LookSmart - Directory - Genetic Disorders And Chromosomal Conditions Genetic disorders and chromosomal Conditions Access resources on awide variety of genetic and chromosomal diseases and illnesses. http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us89791/

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Personal Health Genetic Disorders and Chromosomal Conditions - Access resources on a wide variety of genetic and chromosomal diseases and illnesses. Directory Categories General Information Chromosomal Disorders Cystic Fibrosis Muscular Dystrophy ... Conditions A-Z Directory Listings About Leshin, Len MD - Down Syndrome: Health Issues Pediatrician and father of a child with Down syndrome offers this collection of medical essays and information for other parents. Muscular Dystrophy Association National headquarters describes worldwide research projects, clinical care and support services. National Organization for Rare Disorders NORD offers this clearinghouse of info on rare diseases, including genetic metabolic disorders and birth defects. Genetic Alliance Organization which helps individuals and families with genetic disorders. Includes publications and membership forms. Manuela Martinez Foundation for Children with Metabolic Diseases Foundation dedicated to the research, diagnosis and treatment of children with lipid diseases, Zellweger's Syndrome, Infantile Refsum's, and other peroxisomal diseases. MoSt GeNe - Online Genetic Support Groups Directory Provides an A-Z listing of groups and organizations that provide support to those affected by genetic diseases.

82. BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS Etiolgy Cerebral Occular Facial Syndrome Cerebral Palsy CharcotMarie-Tooth SyndromeChondroplasia Punctata chromosomal Disorder, 45,X chromosomal Disorder, 45X http://medschool.umaryland.edu/BTBank/gldisorders.html

BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS Department of Pediatrics, Room 10-035 BRB University of Maryland, Baltimore 655 W. Baltimore Street Baltimore, MD 21201 (410)-706-1755 (800)-847-1539 FAX: (410)-706-0020 e-mail: btbumab@umaryland.edu in contract to: THE NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT NATIONAL INSTITUTES OF HEALTH Listing of Disorders (as of last update: 09/01/2001) (* signifies Surgical Tissue) Achondroplasia Dwarfism Acute Endocarditis Adrenoleukodystrophy Adrenoleukpdystrophy and Adrenomyeloneuropathy Adrenoleukodystrophy, Carrier Adrenoleukodystrophy, Neonatal Adrenomyeloneuropathy Agenesis of the Corpus Callosum Aicardi-Goutieres Syndrome* Alexander Disease Alpers-Huttenlocher Syndrome Alzheimer's Disease Alzheimer's Disease with Hydrocephalus Alzheimer's Disease, Lewy Body Variant Amniotic Band Sydrome Amyotrophic Lateral Sclerosis Anencephaly Ataxia Ataxia Telangiectasia Attention Deficit Disorder Autism Autism, Suspected Autism (see also: Pervasive Developmental Disorder) AV Canal Defect and Omphalocele Batten's Disease Bipolar Disorder Body-Wall Complex Branchio-Oto-Renal Syndrome Cardia Fibroelastosis Cerebral Edema of Unknown Etiolgy Cerebral Occular Facial Syndrome Cerebral Palsy Charcot-Marie-Tooth Syndrome Chondroplasia Punctata Chromosomal Disorder, 45,X

83. DOC16 || What Are DOC16 Disorders? Sometimes, however, a chromosomal aberration can occur. disorders associatedwith chromosome 16 abnormalities include A Numerical Abnormalities. http://www.trisomy16.org/html/whatare.html

A Brief (and Basic) Overview of Chromosome 16 Disorders Every cell in the body should contain 23 pairs of chromosomes, which carry our hereditary material. Therefore, there should be two 16 chromosomes in each cell in the body. Sometimes, however, a chromosomal aberration can occur. Disorders associated with chromosome 16 abnormalities include: A: Numerical Abnormalities Full Trisomy 16: a chromosomal disorder in which an individual has three copies of chromosome 16 instead of the usual two. Trisomy 16 is not compatible with life and is the most common chromosomal cause of miscarriages (causing over 100,000 miscarriages annually in the U.S. alone). Mosaic Trisomy 16: an extremely rare chromosomal disorder in which an extra chromosome 16 is present in some, but not all, of the cells of the affected individual's body. The affects of the disorder vary greatly, but some of the more common characteristics include intrauterine growth retardation (IUGR) and congenital heart defects. Mosaic Trisomy 16 Confined to the Placenta (CPM): a condition in which the chromosome 16 abnormality is believed to be present only in the placental tissues.

84. Chromosomal Disorder Referral Guidelines Relates to common medical problems and birth defects associated with this specificchromosomal abnormality (eg, thyroid disorders in patients with Down’s http://www.mamc.amedd.army.mil/referral/guidelines/dev_ped_chrom.htm

Attention Deficit Hyperactivity Disorder Cerebral Palsy Chromosomal Disorder Dysmorphic Child Malformation Syndrome Myelodysplasia Sensory Impairment, Profound ... MAMC Intranet or WRMC Internet Referral Guidelines Guideline Updated: 24 February 2004 Specialty: Developmental Pediatrics Chromosomal Disorder Referral Guideline Diagnosis/Definition Patients with chromosomal abnormalities, including trisomies, chromosomal deletions, duplications, translocations, inversions resulting in major and minor congenital anomalies with or without growth retardation and mental retardation. Initial Diagnosis and Management This is dictated by the physical and developmental findings of patients’ specific cytogenetic abnormalities and past medical/surgical management. Careful assessment of growth and development, vision, hearing, and neuromuscular status are important components of the primary care evaluation. Assess family function and use of community/national organization resources.

85. What Can Our Chromosomes Tell Us? Examples of genetic disorders caused by chromosomal abnormalities http://gslc.genetics.utah.edu/units/disorders/karyotype/

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Genetic Disorder Corner What Can Our Chromosomes Tell Us? What Can Our Chromosomes Tell Us? We can learn a lot by looking at chromosomes ! They can tell us everything from the gender of a person to the likelihood that an unborn baby will have a genetic disorder . Scientists often analyze chromosomes in prenatal testing and in diagnosing specific diseases. Follow the links to find out what we can learn from our chromosomes. What are chromosomes? How do scientists read chromosomes? Making a karyotype Using karyotypes to predict genetic disorders Examples of genetic disorders caused by chromosomal abnormalities: Down Syndrome Turner Syndrome Klinefelter Syndrome Cri du chat Syndrome ... Robertsonian Translocation

86. Related Disorders Back To Resources. SOFT welcomes families who are expecting or who havehad a baby with a related chromosomal disorder. These disorders http://www.trisomy.org/html/related_disorders.htm

Back To Resources S OFT welcomes families who are expecting or who have had a baby with a related chromosomal disorder. These disorders are usually more rare than trisomy 18 or 13 and can have many variations of symptoms from little or no apparent problem to profound mental and/or physical problems. When requested, SOFT tries to find a match from its active membership families but there may only be only a few, if any members, with a specific related disorder in the SOFT database. SOFT does not have educational literature for related disorders but following this page, lists other resources that may be of help. Related disorders can occur in any chromosome and may have one or more of the following descriptions: mosaic, monosomy, deletion, partial trisomy, translocation, ring, tetrasomy, duplication, inversion, isochrome, triploidy, and trisomy of chromosomes other than trisomy 18 or 13 The one exception is trisomy 21, Down syndrome, which occurs more often than trisomy 18 or 13, and has its own support groups. SOFT MEMBER CONTACTS for specific chromosomes, as listed:

87. CHROMOSOMAL And TERATOLOGIC DISORDERS chromosomal and TERATOLOGIC disorders. There are seven major disorders listedin this category. A brief description of each is given in the ensuing text http://www.worldortho.com/database/etext/chromosomal.html

CHROMOSOMAL and TERATOLOGIC DISORDERS There are seven major disorders listed in this category. A brief description of each is given in the ensuing text: Down Syndrome (Trisomy 21) This is the most common chromosomal abnormality. The afflicted children usually manifest ligament laxity, hypotonia, endocrine disorders, premature ageing, mental impairment to varying degrees and an inclination towards heart disease. Orthopaedic problems include: - spinal disorders such as scoliosis and spondylolisthis - hip instability may need an osteotomy. - patellar dislocation - planovalgus feet - metatarsus primus varus - slipped capital femoral epiphysis If surgery is planned preoperative cardiac evaluation is essential. Turner Syndrome D) Turner Syndrome - 45, XO affecting females. Afflicted girls exhibit some or all of the following symptoms. - short stature - cubitus valgus - web neck - sexual infantilism - scoliosis [which can be exacerbated to some degree with hormonal therapy] - renal anomalies [affecting about 2/3 of patients] - cardiac anomalies [affecting about 1/3 of patients] - genu valgum Malignant hyperthermia is common after anaesthetic use Noonan Syndrome affecting males.

88. What Are Genetic Disorders? Student Activity What are genetic disorders? student activity This web page presents a student lesson on genetic disorders. The lesson divides genetic disorders into four categories chromosome abnormalities, http://rdre1.inktomi.com/click?u=http://gslc.genetics.utah.edu/units/disorders/w

89. Chromosomal Conditions chromosomal genetic conditions, including trisomy translocation mosaicism, clinics with genetic counselors and geneticists, links to national and international support groups Support Groups for http://www.kumc.edu/gec/support/chromoso.html

Support Groups for Chromosomal Conditions Down syndrome, trisomy 18, trisomy 13, 11q, trisomy 9, 4p-, cri-du-chat, deletions , inversions, duplications, translocations, ring, sex-chromosome anomalies, mosaicism , fragile-x syndrome, other trisomy, variations, cancer cytogenetics , other cytogenetic resources All Chromosomal Conditions (deletions, translocations, trisomy, other) Chromosome Deletion Outreach P.O. Box 724, Boca Raton, FL 33429-0724 Phone: 888.236.6880 (toll free) E-mail: info@chromodisorder.org Web site: www.chromodisorder.org/ UNIQUE: Rare Chromosome Disorder Support Group P.O.Box 2189, Caterham Surrey CR3 5GN England Telephone: 44 (0)1883 330766 E-mail: info@rarechromo.org URL: www.rarechromo.org Little Yellow Book: Guide to Rare Chromosome Disorders (.pdf file) Chromosome Mosaicism Caring, Inc. PO Box 400, Milton, WA 98354 Phone: 206.922.8607 Trisomy Online , family site Trisomy Net Ring family sites about Trisomy and related information Chromosome Rearrangements Discovered Through Prenatal Diagnosis , booklet for families about unusual chromosome abnormalities detected by prenatal diagnosis. Inversions, translocations and markers. Also in

90. Home is a nonprofit volunteer organization offering support for parents who have had a child with a chromesome disorder, and education to familes and professionals interested in the care of these children. What is the Support Organization for Trisomy 18, 13 and Related disorders? Copyright, 1999, Support Organization for Trisomy 18, 13 and other Related disorders. All rights reserved http://www.trisomy.org/

Welcome S.O.F.T. is a nonprofit volunteer organization offering support for parents who have had a child with a chromesome disorder, and education to familes and professionals interested in the care of these children. New!!!For membership updates, you can go to the membership form bottom, click here for membership form, type your info and hit send...please notate in the comments that this is an update!!!! For new members, don't forget your membership donation!!! About Us What is the Support Organization for Trisomy 18, 13 and Related Disorders? Bookstore If you would like more information about Trisomy click here. Local Contacts!! In Most Areas! Membership How to join SOFT or Update your information. What's New Event Listings Sitemap A graphical view of this site. Helpful Links Contact Us LOOK...LINK to Submit Pictures to THE Sunday Video Montage (Slide Presentation) better known as Kris's Annual Video Presentation DEADLINE May 15, 2004

91. Manbir Online ... Hereditary Diseases The 23rd pair consists of the sex chromosomes. addition to mutations, the inheritancepattern or the way in which genetic traits or disorders are expressed http://www.manbir-online.com/htm2/hereditary.htm

Hereditary Diseases Many hereditary diseases are passed on within families from one generation to the next. Just as children may inherit normal features such as brown eyes or curly hair from one or both parents, children can also inherit certain disorders. Whether or not a specific trait or disorder is inherited is determined by hereditary material called " genes ." Genes are the units of hereditary material. They contain coded instructions which direct the development of every cell and tissue in the human body. You might think of genes as blueprints, specifying how the body will develop and function. A gene is a stretch of DNA that tells a cell how to make a protein. Each amino acid is coded for by a three-letter sequence. The cell machinery reads this code, grabs the appropriate amino acids, and strings them together to make a protein. Most researchers believe we have around 100 000 genes. Thousands of genes are found on thread-like structures, called

92. Number Of Cases For Each Disorder With Links To Case Summaries Alzheimer s Disease, Early Onset, 1. Alzheimer s Disease (see chromosomal Disorder,Trisomy 21), 1. Chondroplasia Punctata, 1. chromosomal Disorder, 45,X, 5. http://medschool.umaryland.edu/BTBank/ListofDisorders.htm

UNIVERSITY OF MARYLAND School of Medicine Brain and Tissue Bank Number of Cases for Each Disorder with Links to Case Summaries DISORDER TOTAL Achondroplasia Dwarfism Acute Endocarditis Agenesis of the Corpus Callosum Aicardi-Goutieres Syndrome ... Zellweger, Related, Neonatal ALD

93. References Karyotyping and chromosomal diseases. Basrur, PK, Kanagawa, H. and Gilman,JPW, 1970. An update of chromosomal abnormalities in mares. http://www.vgl.ucdavis.edu/~lvmillon/refs8.html

Home Services Research Informatics Research REFERENCES [This collection of references on genetics of horses is not comprehensive, but should provide good starting material for people looking for information about genetics of horses.] Blood groups, protein polymorphisms, MHC polymorphisms and parentage testing Color and coat Characteristics Equine DNA markers Equus ... Karyotyping and chromosomal disorders Karyotyping and chromosomal diseases Basrur, P.K., Kanagawa, H. and Gilman, J.P.W., 1970. Further studies on the cell populations of an intersex horse. Journal of Comparative Medicine 34:294-298. Blue, M.G., 1981. A cytogenetical study of prenatal loss in the mare. Theriogenology 15:295-309. Bowling, A.T. and Millon, L., 1988. Centric fission in the karyotype of a mother-daughter pair of donkeys (Equus asinus). Cytogenetics and Cell Genetics 47:152-154. Bowling, A.T. and Millon, L., 1990. Two autosomal trisomies in the horse: 64,XX,-26+t(26q26q) and 65,XX,+30. Genome 33:679-682. Bowling, A.T., Millon, L. and Hughes, J.P., 1987. An update of chromosomal abnormalities in mares. Journal of Reproduction and Fertility, Suppl. 35:149-155. Buckland, R.A., Fletcher, J.M. and Chandley, A.C., 1976. Characterization of the domestic horse

94. Exploring Genes & Genetic Disorders This Web site introduces various Internet tools that anyone can use to investigategenetic disorders, chromosomes, genome maps, genes, sequence data, genetic http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/

Human Genome Project Information Genomics:GTL Microbial Genome Program home The U.S. Department of Energy Biological and Environmental Research program funds this site. S cientists, enabled by the Human Genome Project , are churning out an unprecedented volume of data on human chromosomes and the tens of thousands of genes residing on them, many associated with genetic disorders. These data, and many Web sites on human genetic disorders, are freely accessible on the Internet. Gene Gateway, originally designed as a Web companion to the popular Human Genome Landmarks poster, is a collection of guides and tutorials designed to help students and other novice users get started with some of the resources that make these data available to the public. This Web site introduces various Internet tools that anyone can use to investigate genetic disorders, chromosomes, genome maps, genes, sequence data, genetic variants, and molecular structures. NOTE : Genetic disorder information furnished by resources described in this guide should not be used as a substitute for consultation with a physician. Questions or concerns regarding any medical condition should be discussed with a professional, such as a physician, genetic counselor, or medical geneticist. For more information on genetic health professionals, see the HGPI

95. MSN Encarta - Related Items - Chromosome Q A About Genetics. see also Plasmid. see alsoHuman Genome Project. chromosomaldisorders. A Genetic Link to Aggression. general discussion. specific disorders. http://encarta.msn.com/related_761566230_5/chromosomal_disorders.html

var fSendSelectEvents = true; var fSendExpandCollapseEvents = true; var fCallDisplayUAText = false; MSN Home My MSN Hotmail Shopping ... Money Web Search: logoImg('http://sc.msn.com'); Encarta Subscriber Sign In Help Home ... Upgrade to Encarta Premium Search Encarta Related Items from Encarta Chromosome Genetics Heredity see also Plasmid ... Feedback

96. Unique - Rare Chromosome Disorder Support Group - Www.RareChromo.org chromosome disorders within Unique click here. For information on chromosomesand chromosome disorders read The Little Yellow Book. http://www.rarechromo.org/html/disorders.htm

Helpline: 44 (0)1883 330766 E-mail: info@rarechromo.org f Rare Chromosome Disorders Rare chromosome disorders encompass extra, missing or re-arranged chromosome material but do not include the more common conditions such as Down's Syndrome. Using the latest technology, it is now possible for smaller and more complex chromosome defects to be identified. The amount of chromosome material duplicated, missing or re-arranged can vary a great deal. This means that it may be difficult to identify two people who have exactly the same chromosomal disorder. The clinical problems of those affected can also vary enormously even when the chromosome diagnoses are similar. One in every 1,000 babies born in the UK is affected by a rare chromosome disorder including deletions, trisomy, balanced translocations, unbalanced translocations, ring, inversions, duplications, tetrasomy, monosomy, triploidy, isodicentric, marker, mosaic, sex chromosome aneuploidy (e.g. 47,XXX 47,XYY 48,XXXX 49,XXXXY etc.) disorders. . Some of these disorders are so rare that they are actually unique. The diagnostic techniques are still relatively new and, for this reason, Unique's membership is drawn largely from the families - usually parents - of recently diagnosed small children or babies. It is immediately following diagnosis that these families have the greatest need for emotional and practical support and above all, for information. But even among the more common "rare" disorders, it is likely that the professionals in the local community - the GP, Social Worker or even hospital specialists - will have never before come across anyone with the same disorders. The usual sources of support are not available to affected families, yet the effects of the disorders can be devastating. The vast majority of families have a desperate feeling of isolation.

97. Welcome To S.O.F.T Ireland Online 18. Parents should not feel that anything they did or failed to dowas responsible for their baby’s chromosomal disorder. One http://www.softireland.com/trisomy.htm

Frontpage TRISOMY 13/18 Why Trisomy 13 or Trisomy 18 ? Babies have been born with trisomy13 and trisomy18 since the beginning of time, but it was only 1n 1960 that Dr. Patau and Dr. Edwards identified the respective features of these syndromes. Both syndromes are the result of an extra 13th or 18th chromosome, respectively, being present in each cell. One in four of all pregnancies ends in miscarriage and a high proportion are thought to be caused by a chromosomal disorder. A high proportion of trisomy 13 and trisomy 18 pregnancies end in miscarriage within twelve weeks of conception. It is therefore quite rare for such a pregnancy to continue to full term. The incidence of trisomy 13 is 1 in 10,000 of total births while that of trisomy 18 is about 2.5 in 10,000 of total births. In Ireland both North and South, there are approximately seven babies born with trisomy 13 and seventeen babies born with trisomy 18 every year. As the female X chromosome is more viable, there are more girls than boys.

98. Chromosome Disorders - From CLAPA Ireland About chromosome disorders, particularly trisomy, a chromosomaldisorder characterised by an additional chromosome. http://www.cleft.ie/related/chromosomes.htm

You are here: Home Page Related Syndromes Chromosome Disorders Chromosome Disorders Humans have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors, such as growth and function. A chromosome disorder is caused by an alteration in the number or genetic structure of chromosomes. A trisomy ('three bodies') is a chromosomal disorder characterised by an additional chromosome, so the person has 47 instead of 46. Down's syndrome (Trisomy 21), Edward's syndrome (Trisomy 18) and Patau's syndrome (Trisomy 13) are the most common forms of trisomy. Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities. Trisomy 13 and 18 births are as common as cystic fibrosis and more frequent than muscular dystrophy or neurofibromatosis. Although trisomy 13 and 18 births are considered to be rare, together they number 1 in 1,800 pregnancies and they are the most common autosomal trisomies after Down's syndrome. Sometimes, signs of trisomy disorders may be evident during the pregnancy. Some of these signs may include;

99. HON Mother & Child Glossary, Genetics: Basics And Definitions The major types of genetic disorders are described below 2 . Chromosomaldisorders are abnormalities in the number or structure of the chromosomes. http://www.hon.ch/Dossier/MotherChild/birth_disorders/genetic_definitions.html

Introduction Reproduction Pregnancy During Pregnancy ... Glossary A-Z Birth Labour Delivery Immediate Care Birth Procedures ... Birth Disorders Genetic Definitions Genetics - Basics The human body is made of cells; all cells contain chromosomes , which contain allmost all of the cell's Deoxyribonucleic acid (DNA). DNA is the genetic material, or genes which provide the genetic blueprint for all offspring produced. Most cells of the human body contain 23 pairs of chromosomes, half of which are inherited from each parent. Only the human reproductive cells, the sperm cells in males and the ovum in females, have 23 individual chromosomes, not pairs. Scientists identify these chromosome pairs as the XX pair , present in females, and the XY pair , present in males, and number them 1 through 22. When the reproductive cells, the sperm and ovum , combine at fertilization , the fertilized egg that results contains 23 chromosome pairs and the combination of the genetic blueprint from the mother and father. A fertilized egg that will develop into a female contains chromosome pairs 1 through 22, and the XX pair. A fertilized egg that will develop into a male contains chromosome pairs 1 through 22, and the XY pair. Genetic disorders may be influenced by several factors. When a disease runs in a family, faulty genes are passed from parent to child. Or a change in the genetic material, a mutation, may occur during formation of an egg or sperm cell. Mutations may also appear during fetal development. In these cases, children with genetic abnormalities may be born to parents without genetic disorders. The major types of genetic disorders are described below:

100. BabyCenter | Community: BBS - Termination For Medical Reasons | A Spina Bifida B Termination for medical reasons A spina bifida board and chromosomaldisorders board! . Posts 2 Last Post May 5, 2004, 541 PM (PDT). http://bbs.babycenter.com/board/pregnancy/pregnancygrief/4293/thread/1013844

var ACM, oPopup, oDefPopup, offsetTop=10, offsetLeft=10; You seem to have disabled JavaScript. To take full advantage of our site and functionality, we recommend you enable Javascript. How? Preconception Pregnancy Baby ... Termination for medical reasons "A spina bifida board and chromosomal disorders board!" Posts: Last Post: May 5, 2004, 5:41 PM (PDT) JOIN IN: See all Boards Create a new thread Add a message WATCHES: My watches Start watching this thread HOW TO: Getting started Community Guidelines Back to Termination for medical reasons Messages First Last Author: momtosky May 5, 2004 , 1:50 PM (PDT) Spina Bifida: http://bbs.babycenter.com/board/baby/babyills/1378220 Chromosome Disorders: http://bbs.babycenter.com/board/baby/babyills/1378212 HTH someone looking for information. Boards are brand new so feel free to post any information you may have, or seek, regarding the topics of the boards! Take care. Marsha Add a post Quote this post Author: bkhiles May 5, 2004

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-100 of 100    Back | 1  | 2  | 3  | 4  | 5