81. æ“VˆÙíÇŒóŒQŽ«“T‰ºŠª 235, pallisterkillian mosaic syndrome, ?, 464. 236, pallister-W syndrome,?, 466. 237, palsy, congenital facial, ?, 467 http://www.nippon-rinsho.co.jp/backnum/s_mokuji/sentenjiten-2.html

HOME ÇŒóŒQ ƒoƒbƒN ƒiƒ“ƒo[ 2001”N@•Êû@—̈æ•ÊÇŒóŒQƒVƒŠ[ƒY •W‘è ƒgƒbƒvƒI[ƒT[ •–؁@—ǘa ‘æII•Ò@Še˜_[2] ichthyosis ‹à@@Œc² ichthyosis-cheek-eyebrow syndrome ‹à@@Œc² ichthyosis-coloboma-heart defect-deafness-mental retardation ‹à@@Œc² IFAP syndrome(ichthyosis follicularis, alopecia, and photophobia syndrome) ‹à@@Œc² immunodeficiency, hyper IgE type ‹à@@Œc² immunodeficiency, Wiskott-Aldrich type ‹à@@Œc² immunodeficiency with centromeric instability, immunodeficiency-centromeric instability-facial anomalies(ICF) ì–ځ@@—T incontinentia pigmenti, Bloch-Sulzberger syndrome ‹à@@Œc² inflammatory disease, neonatal Bates-Lorber type ‹à@@Œc² IVIC syndrome jaw-winking syndrome jejunal atresia Johanson-Blizzard syndrome Joubert syndrome Kabuki make-up syndrome •–؁@—ǘa Kallmann syndrome ‰iˆä@•q˜Y Karsch-Neugebauer syndrome KBG syndrome keratosis palmaris et plantaris of Unna-Thost Keutel syndrome kidney, medullary sponge kidney, polycystic disease-cataract-blindness kidney, polycystic disease, dominant kidney, renal dysplasia, Potter type II

82. PubMed Journal Articles : Epilepsy.com pallisterkillian syndrome (PKS) is a disorder caused by a mosaic tetrasomy ofchromosome 12p, which manifests with dysmorphism, intellectual disabilities, http://www.epilepsy.com/pubmed/pubmed.php?article=15967614

83. Short Description Of Cell Lines. Tissue/organ: Fibroblast C93 (human, Caucasian, pallister killian syndrome) GGB CD88f (human, Caucasian,Down syndrome, mosaic) - GGB CD89P (human, Caucasian) - GGB http://www.biotech.ist.unige.it/cldb/tis49.html

Version Short description of cell lines. Tissue/organ: fibroblast By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser hamster, Syrian MWIIW rat, Fisher ECACC ... By Beatrice... Receive email when this page changes Click Here Powered by Netmind

84. Review Article The Impact Of Nondisjunction In Humans Not Only short arm of these chromosomes cause highly specific malformation syndromes,eg the pallisterkillian syndrome (mosaic-tetrasomy 12p) or tetrasomy 9p. http://www.biologia.uniba.it/eca/NEWSLETTER/NS-2/2-.html

Review Article The Impact of Nondisjunction in Humans: Not only numerical Chromosome Aberrations, but more. Albert Schinzel The importance of chromosome nondisjunction for the formation of numerical chromosome aberrations, especially trisomy, is well known. Numerical chromosome aberrations constitute the vast majority of chromosomal imbalance in human, both in live-borns and in spontaneous abortions (whereby 45,X and triploidy have higher incidences than any single trisomy). Recent molecular studies have confirmed the overwhelming contribution of maternal meiotic non-disjunction to autosomal trisomy and sex chromosomal hyperdiploidy. Exceptions include 47,XYY (always paternal), 47, XXY (about one half due to paternal non-disjunction) and 48,XXYY (always three sex chromosomes [X,Y,Y] from the father and only one X from the mother). However, it has been shown that the impact of non-disjunction goes beyond the aneuploidy of whole chromosomes. Summary Nondisjunction leading to autosomal trisomy or sex chromosome aneuploidy constitutes the major cause of chromosomal aberrations, both in live-borns and - even more, in spontaneous abortions. Recent studies, however, have shown that meiotic nondisjunction is also the first step leading to some structural chromosome aberrations, particularly to almost all cases of additional isochromosomes or isodicentric chromosomes. Moreover, some mosaic duplications also start from meiotic trisomy, followed by reduction to uniparental disomy and formation of structural aberrations. Most instances of maternal UPD start from meiotic trisomy with concordant or subsequent loss of the paternal homologue. In addition, advanced mean maternal age in cases of paternal UPD suggests that meiotic nondisjunction may also result in hypohaploidy which would then constitute a major cause of very early fetal demise and occasionally may result in paternal UPD.

85. PKS Support Brochure Patients with pallisterkillian mosaic syndrome typically have low muscle pallister-killian mosaic syndrome is caused by Tetrasomy of chromosome 12p. http://pksonline.org/brochure/pksbrochure.htm

Home About PKS Our Mission Brochure ... In the News PKS A Guide for Parents Dealing with Pallister Killian Mosaic Syndrome We are very grateful for the efforts of all involved to bring this brochure to light. If we have helped one parent feel supported, enlightened and hopeful of their child’s future, we have succeeded. Help us keep this information flowing to all new families that are beginning their journey in dealing with PKS. Donations are gladly accepted. PKS 2749 Maida Lane Rotterdam, NY 12306 USA Make your donation now, online: Click Here Now Your child has been diagnosed with a syndrome called Pallister Killian Syndrome (PKS) . The best way to help your child is to learn all you can about this syndrome and the way your child will develop. Pallister Killian Syndrome can also be known as: Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Pallister Mosaic Syndrome Tetrasomy 12p According to NORD (National Organization for Rare Disorders), “

86. All.info Science And Health / Health And Medicine / Genetic Down syndrome Health Issues Medical Essays and Information Medical essays andinformation about Down syndrome for pallister-killian mosaic syndrome http://allinfo.com/directory/Science_and_Health/Health_and_Medicine/Genetic_Dise

Search Topics: Start/Stop HOME All Topics Science ... Listings You are in: Science and Health Health and Medicine Genetic Diseases Suggested Categories: Science and Health > Health and Medicine > Genetic Diseases Science and Health > Health and Medicine > Neurological Disorders > Genetic Diseases Science and Health > Health and Medicine > Support Organizations > Genetic Diseases THE ANDY FUND ... http://www.andy.org.mx/ (opens in new window) Down Syndrome: Health Issues - Medical Essays and Information Medical essays and information about Down Syndrome for parents and professionals. Site produced by: a Professional Site contains: Academic Content http://www.ds-health.com/ (opens in new window) Glutaric Aciduria type 1 home page Site about my daughter Allison, a glutaric aciduria type 1 patient. Info about this disease , and how it affected her through her short life. list of doctors, resources and suppliers. http://www.ga1.freeservers.com/ (opens in new window) Splash Page for the NSW Huntington's Disease Association... The Association provides support to families living with Huntington's Disease in the Australian state of New South Wales and the Australian Capital Territory.

87. Library Page Numbers 10 To 15 Clinical overlap of OFD Type IX with pallister killian syndrome pallisterMosaicsyndrome and neuronal migration disorder Brain Development 2003 http://www.chromodisorder.org/sytrix/card_list.php3?dbid=80&id=193

88. Search % Of De Novo Vs Inherited Apparently Balanced pallister killian syndrome do my chances of having more children with PKS As you wrote in your email, pallister-killian syndrome seems to happen for http://www.chromodisorder.org/sytrix/card_list.php3?dbid=63&id=497

89. PALLISTER-KILLIAN SYNDROME: Contact A Family - For Families With Disabled Childr pallisterkillian syndrome (PKS) is a very rare chromosomal condition. Support and advice for pallister-killian syndrome is available from Unique, http://www.cafamily.org.uk/Direct/p075.html

printer friendly PALLISTER-KILLIAN SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no PKS affects both males and females equally. The condition is present at birth and the oldest known individuals with PKS are in their forties. The major symptoms of PKS include a characteristic facial appearance, learning difficulties , seizures (see entry, epilepsy ), loss of muscle tone ( hypotonia ) and streaks of skin in which there is no colour (hypopigmentation) or darker skin colour than normal (hyperpigmentation) anywhere on the body. Individuals may show some or all of these features and, in addition, may be differently affected in the severity of their symptoms. Typically individuals with PKS have a high forehead, sparse hair on the temple region of the scalp and eyebrows, an abnormally wide space between the eyes, a fold of skin over the inner corner of the eyes and a flat nose. At birth infants with PKS are profoundly hypotonic (floppy) and this may persist into later life. Between the ages of 5 and 10 years, children may have stiffness of joints (contractures). Children are almost always developmentally delayed with learning difficulties and minimal speech. Seizures may occur during infancy. Difficulties with vision (see entry, visual impairment ) and hearing (see entry

90. Links: - Alabama Council For Developmental Disabilities Kindler syndrome An article and case study of this rare disease. pallisterKillian mosaic syndrome pallister-Hall syndrome Pemphigoid Pemphigus http://www.acdd.org/Links/conditions/Rare_Disorders.htm

Skip to content You are here: Home Links Conditions Rare Disorders Rare Disorders G rants Council In f ... me On this page: General Disorders General Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. Contact a Family - Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization. International Rare Disease Support Network - A community providing more than a 1000 different links to support groups for the people of all nations. Kindler Syndrome - An article and case study of this rare disease. Includes links. National Organization for Rare Disorders, Inc.

91. Fryns Syndrome. Jog SM, Patole SK, Whitehall JS J Postgrad Med The pallisterkillian syndrome, one of the close differentials of Fryns syndrome,is a rare polymalformative complex characterised by a tissue specific http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2002;volume=48;issue=2

92. Children's Hospital pallister killian A combination of birth defects caused by a mosaic DownSyndrome Numerical Abnormalities Overview of Trisomies and Monosomies http://www.childrenscentralcal.org/content.asp?id=1832&parent=1

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