DOCSLIB.ORG

Inside This Issue

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Inside This Issue Winter 2014 No. 77 Inside this issue Group News | Fundraising | Members’ Letters | One Family Living with Two Different Chromosome Disorders | Bristol Conference 2014 | Unique Leaflets | Christmas Card Order Form Sophie, Unique’s Chair of Trustees Dear Members, In the past month a few things have reminded me of why it is so important to make connections through Unique but also to draw support from other parents around us. I’ve just returned from Unique’s most recent family conference in Bristol where 150 of us parents and carers had a lovely time in workshops, meals and activities, chatting and watching our children milling around together like one big family since – although we had never met before – we have shared so many experiences in common. However in contrast I have also just met a new mum who has just moved to my area from far away with two toddlers, one with a rare joys of the internet, it is becoming easier to meet others with similar, chromosome disorder, who is starting from scratch with no even very rare, chromosome disorders around the world and to find professional, medical or social support. She reminds me of how yourself talking to them in the middle of the night about some lonely I felt when Max was newly diagnosed, when I knew no one interesting things our children share in common (obsession with with a disabled child let alone anyone with a rare chromosome catalogues, anyone?) And of course we also have an enormous disorder. Elsewhere our latest Unique Facebook group, Unique amount in common with so many parents of children with other Russia, is also just starting up – so far it includes just a small special needs or disabilities around us in our own communities who number of members sharing very different experiences to mine here will often be walking the same path as us. in the UK but I hope drawing comfort from each other. The search for information is key to what Unique does but I wonder if When repeated hospital visits, ongoing battles over our children’s in fact making contact with each other, building links and friendships schooling or the day-to-day eating/sleeping/toileting issues get us with people who understand, is actually even more so? down, it is easy to feel isolated but it is really important to remember that we are not actually alone and to reach out for support. Remember to keep looking out for other new Unique members in your region – as numbers of children being diagnosed with rare chromosome disorders grow we are less and less likely to be the only rare chromosome disorder family on the block. Thanks to the Sophie, mother of Max, dup 9p Beverly, Unique’s CEO Dear Friends At our recent conference in Bristol (pages 13-20) I was really struck with an ultra-rare chromosome disorder compared with her other by the large number of professionals who had willingly given up their son with the well-known Down Syndrome. We recently repeated our weekend to run workshops, 1:1 clinics and information stands as survey of UK families’ experiences of diagnosis and genetic well as helping out in the crèche. We have tried very hard over many counselling and were pleased to see that in the intervening 10 years years not only to gain the trust of professionals in the work we do to the percentage of families being told about Unique at that stage had help families affected by rare chromosome disorders but also to risen from about 30% to about 70%. However, what about the support professionals in their own work with families by providing remaining 30% who weren’t told about us and struggled to find us on information and representing the viewpoint of families. This strategy their own and the many more families who never find us and remain certainly seems to have paid off. We have a veritable army of isolated? So my plea to you is to continue to raise awareness at every professionals helping us and willing to give us the opportunity. Ask your professionals if one of the Unique team can benefit of their advice and expertise, among come and present to them about rare chromosome disorders and them frontline clinical geneticists and the work of Unique in one of their regular learning seminars, just as other healthcare professionals, I did recently to 25 trainee paediatricians here in Surrey. It’s up to educators, therapists and social each and every one of us to push for the very best information, workers, as well many working in services and help for our precious children. diagnostic and research labs. But Kindest regards there is still much work left to do raise awareness among professionals. For instance Mum Ana Marshall’s article on page 9 Beverly eloquently demonstrates how much harder it has been to secure Front cover: Some of our beautiful children at the Bristol conference services and recognition for her son www.rarechromo.org 2 GROUP NEWS Rare Chromosome Disorder Awareness Week 2015 Awareness week this year was more successful than we could possibly have imagined, so we are raring to go for next year’s event! Please mark off Sunday 7th June to Saturday 13th June 2015 in your diaries and start planning what you are going to do to raise awareness. We’ll post more details on the Unique website, on our many Facebook pages and in the next magazine as soon as we can. Do let us know what you are going to do. Unique raises awareness at the British Society of Genetic Medicine conference Unique Information Officer Cathryn Moss writes: Sarah and I visited Liverpool for a few days in September to man the Unique stand at the annual BSGM (British Society for Genetic Medicine) conference. It was great to see so many Unique supporters there, including some of my old colleagues from the Birmingham genetics team. We also went to some of the lectures and the great debate, making it a busy and interesting Robert Leech Estate Agents select Unique few days! as one of their chosen charities Located in Oxted where Unique is based, local estate agents Unique Practical Information Guides Robert Leech have recently chosen Unique as one of their Did you know that as well as our chromosome information charities to support. Robert Leech Estate Agents have three guides we also have practical information guides? offices in total, the other branches are in Lingfield and Reigate, • After Diagnosis – What next? covering Surrey, Sussex and Kent. Unique has been added to • Communication guide their list of charities for their clients to support. As part of their • Education guide (this was written before the new SEND support they will donate £100 for every instruction received, on reforms came into force) completion of sale or referral when Unique is mentioned. So, if • Feeding New! you, a friend, family member or colleague living in the Surrey, • Grants and funding guide Sussex and Kent area are looking to buy or sell a house, please • Holidays short breaks travel guide do visit the Robert Leech website www.robertleech.com and • Outdoor bikes leisure and sensory toys mention the Unique name. We are delighted Robert Leech Estate • Sleep Agents have added us to their list of supported charities and • Supporting Siblings of Children with a Rare Chromosome we’d like to take this opportunity to thank them. We look forward Disorder to working with you. • Teeth New! They are available to download from our website. Or you can obtain a copy from [email protected] (UK telephone number 01293 525504 ). Unique Sticky Notes In addition to our pin badges, wristbands and other merchandise, we now have Unique sticky notes for sale. Our handy block of approximately 100 sticky-notes features the Unique logo in colour and are great for the home or office to make sure you never forget anything again! To order yours today, please see the order form at the back of the magazine. We are very grateful to Unique Dad Ian Hill for arranging the printing of the sticky notes. Ian said: “It is a pleasure to be able to support you after the support I have been given by the team in the weeks since we registered since getting the diagnosis of Two members of staff from the Reigate office, Ben and Sarah duplication 15q took part in the ‘Nuts Challenge’ at Beare Green, Dorking on 31st on our son, August raising money for Unique. Despite Ben not feeling well, Matthew.” he soldiered on and completed two out of the three laps – what a trooper! A big thank you to you both. www.rarechromo.org 3 GROUP NEWS Booklets to help parents tell their child about a diagnosis of an extra sex chromosome When a child is diagnosed with a chromosome disorder, parents will want to know what the impact will be for the child and the family. Another question that will arise sooner or later is how to discuss the diagnosis with the child and with other people. If the disorder has obvious effects on development, then a diagnosis can be helpful in providing an explanation. Things are more complicated, though, for a condition such as a sex chromosome trisomy (47, XYY, 47, XXX also known as triple X or trisomy X, and 47,XXY, also known as Klinefelter's syndrome). Children with all three trisomies are at risk of educational difficulties, particularly those affecting language and communication, but the range of outcomes is very wide. Most children attend mainstream school and some will go on to university.
Load more

Recommended publications
  • Phenotype Correlations in Individuals with Pathogenic RERE Variants
    Genotype-phenotype correlations in individuals with pathogenic RERE variants Valerie K. Jordan,1 Brieana Fregeau,2 Xiaoyan Ge,3,4 Jessica Giordano,5 Ronald J. Wapner,5 Tugce B. Balci,6 Melissa T. Carter,6 John A. Bernat,7 Amanda N. Moccia,8 Anshika Srivastava,8 Donna M. Martin,8,9 Stephanie L. Bielas,8 John Pappas,10 Melissa D. Svoboda,11 Marlène Rio,12,13 Nathalie Boddaert,12,14 Vincent Cantagrel,12,15 Andrea M. Lewis,3,16 Fernando Scaglia,3,16 Undiagnosed Diseases Network, Jennefer N. Kohler,17 Jonathan A. Bernstein,17 Annika M. Dries,17 Jill A. Rosenfeld,3 Colette DeFilippo,18 Willa Thorson,19 Yaping Yang,3,4 Elliott H. Sherr,2 Weimin Bi,3,4 Daryl A. Scott1,3,16* 1) Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA 2) Department of Neurology, University of California, San Francisco, San Francisco, CA, USA 3) Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 4) Baylor Genetics, Houston, TX, USA 5) Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, NY, USA 6) Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada 7) Stead Family Department of Pediatrics, The University of Iowa, Iowa City, IA, USA 8) Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record.
    [Show full text]
  • The National Economic Burden of Rare Disease Study February 2021
    Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc.
    [Show full text]
  • Ring Chromosome 4 49,XXXXY Patients Is Related to the Age of the Mother
    228 Case reports placenta and chorionic sacs were of no help for Further cytogenetic studies in twins would be diagnosis. The dermatoglyphs are expected to be necessary to find out whether there is a relation different, even ifthey were monozygotic, in relation to between non-disjunction and double ovulation or the total finger ridge count; since according to whether these 2 events are independent but could Penrose (1967), when the number of X chromosomes occur at the same time by chance. increases, the TFRC decreases in about 30 per each extra X. The difference of 112 found in our case is so We want to thank Dr Maroto and Dr Rodriguez- striking that we believe that we are facing a case of Durantez for performing the cardiological and dizygosity. On the other hand, the blood groups were radiological studies; Dr A. Valls for performing the conclusive. All the systems studied were alike in Xg blood group. We also wish to thank Mrs A. both twins except for the Rh. In the propositus the Moran and Mrs M. C. Cacituaga for their technical phenotype was CCDee while in the brother it was assistance. cCDee, which rules out monozygosity. The incidence of dizygotic twins with noncon- J. M. GARCIA-SAGREDO, C. MERELLO-GODINO, cordant chromosomal aneuploidy appears to be low. and C. SAN ROMAN To the best of our knowledge we think that ours is the From the Department ofHuman Genetics, first reported case of dizygotic twins with this specific Fundacion Jimenez Diaz, Madrid; and anomaly. U.C.I., Hospital Infantil, C.S.
    [Show full text]
  • Ring 21 FTNW
    Ring 21 rarechromo.org Sources Ring 21 The information Ring 21 is a rare genetic condition caused by having a in this leaflet ring-shaped chromosome. comes from the Almost half of the people with ring 21 chromosomes medical literature described in the medical literature are healthy and and from develop normally. Their unusual chromosomes are Unique’s discovered by chance, during tests for infertility or after members with repeated miscarriages or after having an affected baby. Ring 21 In other people the ring 21 chromosome affects (referenced U), development and learning and can also cause medical who were problems. In most of these people these effects are surveyed in slight but in some people they can be severe. The 2004. Unique is effects can even vary between different members of the very grateful to same family. The reason for these differences is not yet the families who fully understood. took part in the survey. What is a chromosome? The human body is made up of cells. Inside most cells is References a nucleus where genetic information is stored in genes which are grouped along chromosomes. Chromosomes The text contains are large enough to be studied under a microscope and references to come in different sizes, each with a short (p) and a long articles published (q) arm. They are numbered from largest to smallest in the medical according to their size, from number 1 to number 22, in press. The first- addition to the sex chromosomes, X and Y. A normal, named author healthy cell in the body has 46 chromosomes, 23 from and publication the mother and 23 from the father, including one date are given to chromosome 21 from each parent.
    [Show full text]
  • The Advantage of Genome-Wide Microarrays Over Targeted Approaches
    PDF hosted at the Radboud Repository of the Radboud University Nijmegen The following full text is a publisher's version. For additional information about this publication click this link. http://hdl.handle.net/2066/70828 Please be advised that this information was generated on 2021-09-24 and may be subject to change. COPY NUMBER VARIATION AND MENTAL RETARDATION opmaak koolen.indd 1 10-09-2008 10:11:31 Copy number variation and mental retardation The studies presented in this thesis were performed at the Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. The research was supported by a grant from the Netherlands Organization for Health Research and Development (ZonMw). Publication of this thesis was financially supported by the Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. ISBN/EAN 978-90-6464-290-6 © 2008 D.A. Koolen All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, by print or otherwise, without permission in writing from the author. Cover photo: Printed by: Ponsen & Looijen B.V., Wageningen opmaak koolen.indd 2 10-09-2008 10:11:31 Copy number variation and mental retardation Een wetenschappelijke proeve op het gebied van de Medische Wetenschappen Proefschrift ter verkrijging van de graad doctor aan de Radboud Universiteit Nijmegen op gezag van de rector magnificus prof. mr. S.C.J.J. Kortmann, volgens besluit van het College van Decanen in het openbaar te verdedigen op donderdag 6 november 2008 om 15.30 uur precies door David Aljosja Koolen geboren op 22 juni 1976 te ‘s-Gravenhage opmaak koolen.indd 3 10-09-2008 10:11:32 Promotor: Prof.
    [Show full text]
  • Klinefelter Syndrome) at 9 Years of Age
    17th SSBP International Research Symposium Developmental trajectories of behavioural phenotypes Programme Book 10–13 October 2014 • New York, USA 2 17th International SSBP Research Symposium The Society for the Study 3 of Behavioural Phenotypes 10th – 13th October 2014 The 17th SSBP International Meeting Developmental Trajectories of Behavioural Phenotypes New York, USA 10th – 13th October 2014, New York, USA Contents Contents Welcome ........................................................................................................................................................................................................9 New York Conference Organiser ..............................................................................................................................................10 Scientific Committee ..........................................................................................................................................................................11 4 The SSBP .......................................................................................................................................................................................................12 The SSBP Executive Committee : ...........................................................................................................................................................................12 Meetings of the SSBP ....................................................................................................................................................................................................13
    [Show full text]
  • RARE CHROMOSOME DISORDERS the Term, ‘Rare Chromosome Disorders’, Refers to Conditions Which
    INFORMATION SHEET Page 1 COMPLEX LEARNING DIFFICULTIES AND DISABILITIES RESEARCH PROJECT (CLDD) RARE CHROMOSOME DISORDERS The term, ‘rare chromosome disorders’, refers to conditions which: 1. occur due to missing, duplicated or re-arranged chromosome material 2. have a low prevalence rate (thus not including chromosomal disorders such as Down syndrome). Chromosomes are structures found in the nuclei of cells in human bodies. Each chromosome contains thousands of genes which determine how we grow and develop. A typically developing person will have 23 pairs of chromosomes with one member of each pair being inherited from each parent, giving a total of 46 individual chromosomes. Two of these are the sex chromosomes which determine whether we are female (XX) or male (XY). The remaining 44 chromosomes are grouped in 22 pairs, numbered 1 to 22. The arms of a chromosome are called ‘p’ (shorter arm) and ‘q’ (long arm) (see Figure 1); these arms are separated into numerical regions, which in turn are divided into bands and sub-bands. p q Figure 1. Diagram of a chromosome Individually, rare chromosome disorders are extremely uncommon, with some being actually unique; however, collectively rare chromosome disorders make up at least one in every 200 live births, with babies either having symptoms from birth or early childhood, or being carriers of a chromosomal abnormality and experiencing the effects when they try to reproduce in later life (Searle and Hultén, 2009). Recent advances in technology and medical expertise has meant that chromosomes can be viewed at ever increasing magnifications, which is resulting in the detection of more complex defects.
    [Show full text]
  • Genetic Causes.Pdf
    1 September 2015 Genetic causes of childhood apraxia of speech: Case‐based introduction to DNA, inheritance, and clinical management Beate Peter, Ph.D., CCC‐SLP Assistant Professor Dpt. of Speech & Hearing Science Arizona State University Adjunct Assistant Professor AG Dpt. of Communication Sciences & Disorders ATAGCT Saint Louis University T TAGCT Affiliate Assistant Professor Dpt. of Speech & Hearing Sciences University of Washington 1 Disclosure Statement Disclosure Statement Dr. Peter is co‐editor of a textbook on speech development and disorders (B. Peter & A. MacLeod, Eds., 2013), for which she may receive royalty payments. If she shares information about her ongoing research study, this may result in referrals of potential research participants. She has no financial interest or related personal interest of bias in any organization whose products or services are described, reviewed, evaluated or compared in the presentation. 2 Agenda Topic Concepts Why we should care about genetics. Case 1: A sporadic case of CAS who is missing a • Cell, nucleus, chromosomes, genes gene. Introduction to the language of genetics • From genes to proteins • CAS can result when a piece of DNA is deleted or duplicated Case 2: A multigenerational family with CAS • How the FOXP2 gene was discovered and why research in genetics of speech and language disorders is challenging • Pathways from genes to proteins to brain/muscle to speech disorder Case 3: One family's quest for answers • Interprofessional teams, genetic counselors, medical geneticists, research institutes • Early signs of CAS, parent education, early intervention • What about genetic testing? Q&A 3 “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 2 Why should you care about genetics? 4 If you are a parent of a child with childhood apraxia of speech … 5 When she was in preschool, He doesn’t have any friends.
    [Show full text]
  • 22Q13.3 Deletion Syndrome
    22q13.3 deletion syndrome Description 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures or lose skills they had already acquired (developmental regression). Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth.
    [Show full text]
  • First Case Report of Maternal Mosaic Tetrasomy 9P Incidentally Detected on Non-Invasive Prenatal Testing
    G C A T T A C G G C A T genes Article First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing Wendy Shu 1,*, Shirley S. W. Cheng 2 , Shuwen Xue 3, Lin Wai Chan 1, Sung Inda Soong 4, Anita Sik Yau Kan 5 , Sunny Wai Hung Cheung 6 and Kwong Wai Choy 3,* 1 Department of Obstetrics and Gynaecology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China; [email protected] 2 Clinical Genetic Service, Hong Hong Children Hospital, Ngau Tau Kok, Hong Kong, China; [email protected] 3 Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Hong Kong, China; [email protected] 4 Department of Clinical Oncology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China; [email protected] 5 Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong, China; [email protected] 6 NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China; [email protected] * Correspondence: [email protected] (W.S.); [email protected] (K.W.C.); Tel.: +852-25-957-359 (W.S.); +852-35-053-099 (K.W.C.) Abstract: Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from Citation: Shu, W.; Cheng, S.S.W.; chromosome 9p.
    [Show full text]
  • 1P36 Deletion Syndrome: an Update
    References (1) Rosenfeld JA, et al. Refinement of causative genes in YOU monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med CONTACT US Genet 2010, 152A:1951–1959. Chromosome Disorder Outreach (2) Jordan VK, et al. 1p36 deletion syndrome: an update. ARE Applications Clin Genet 2015, 8:189-200. P.O. Box 724 (3) Oiglane-Shlik E, et al. Monosomy 1p36 - A multifaceted Boca Raton, FL 33429-0724 and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities. Eur J Paed Neurol NOT 2014, 18:338-346. Family Helpline 561.395.4252 [email protected] (4) Battaglia A, et al. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental www.chromodisorder.org ALONE retardation. Pediatrics 2008, 121:404-410. (5) Chan YTP, et al. Answer to "Clinical Quiz". HK J Paediatr (New Series) 2015, 20:212-214. Chromosome (6) Arndt A-K, et al. Fine mapping of the 1p36 deletion Disorder Outreach syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet 2013, 93: 67-77. (7) Zaveri HP, et al. Identification of critical regions and ABOUT US candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 Deletion 1p36. PLOS ONE 2014, 9:e85600. Chromosome Disorder Outreach Syndrome Author: Colleen Donnelly provides support and information to anyone diagnosed with a rare chromosome change, (Monosomy 1p36) rearrangement or disorder. CDO actively promotes research and a positive community understanding of all chromosome disorders. CDO is a 501c3 organization founded in 1992.
    [Show full text]
  • Sema4 Noninvasive Prenatal Select
    Sema4 Noninvasive Prenatal Select Noninvasive prenatal testing with targeted genome counting 2 Autosomal trisomies 5 Trisomy 21 (Down syndrome) 6 Trisomy 18 (Edwards syndrome) 7 Trisomy 13 (Patau syndrome) 8 Trisomy 16 9 Trisomy 22 9 Trisomy 15 10 Sex chromosome aneuploidies 12 Monosomy X (Turner syndrome) 13 XXX (Trisomy X) 14 XXY (Klinefelter syndrome) 14 XYY 15 Microdeletions 17 22q11.2 deletion 18 1p36 deletion 20 4p16 deletion (Wolf-Hirschhorn syndrome) 20 5p15 deletion (Cri-du-chat syndrome) 22 15q11.2-q13 deletion (Angelman syndrome) 22 15q11.2-q13 deletion (Prader-Willi syndrome) 24 11q23 deletion (Jacobsen Syndrome) 25 8q24 deletion (Langer-Giedion syndrome) 26 Turnaround time 27 Specimen and shipping requirements 27 2 Noninvasive prenatal testing with targeted genome counting Sema4’s Noninvasive Prenatal Testing (NIPT)- Targeted Genome Counting analyzes genetic information of cell-free DNA (cfDNA) through a simple maternal blood draw to determine the risk for common aneuploidies, sex chromosomal abnormalities, and microdeletions, in addition to fetal gender, as early as nine weeks gestation. The test uses paired-end next-generation sequencing technology to provide higher depth across targeted regions. It also uses a laboratory-specific statistical model to help reduce false positive and false negative rates. The test can be offered to all women with singleton, twins and triplet pregnancies, including egg donor. The conditions offered are shown in below tables. For multiple gestation pregnancies, screening of three conditions
    [Show full text]