DOCSLIB.ORG

PE2917 22Q11.2 Related Disorders

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
PE2917 22Q11.2 Related Disorders Patient and Family Education 22q11.2-Related Disorders 22q11.2 (called “22q”) -related disorders are conditions caused by differences Overview of 22q11.2- in part of a child’s chromosomes. Chromosomes contain genes, which tell our related disorders, cells how to work and what proteins to make. There are 23 pairs of including features, chromosomes in each cell of the body. If there are problems with certain causes, diagnosis and chromosomes, it can affect how a child’s body grows and functions and how treatment they look. What are the 22q11.2-related disorders? There are two disorders related to chromosome number 22: • 22q deletion syndrome is caused by a small piece of the chromosome that is missing. The missing piece is at a specific spot on the chromosome (called region 22q11.2). For 90% of children with 22q deletion, this is a new genetic change (not passed down from a parent). • 22q duplication syndrome is caused by an extra copy of a small piece of chromosome 22 in the same region. These conditions are linked to many health issues. They can affect your child’s growth, feeding, breathing, speaking, hearing, learning and mental health. What are the features of 22q11.2-related disorders? The features of 22q11.2-related disorders differ widely, even among members of the same family. The condition can affect how your child’s eyelids, nose and ears look. These can include: • Eyelids that look “hooded” or heavy • A nose that is tube-shaped • Ears that are folded over more than usual at the edges • A face that looks long, with flat cheeks • A narrow mouth 1 of 3 22q11.2-Related Disorders The disorders may cause problems with your child’s: • Roof of the mouth (palate), including cleft palate • Ears, nose or throat • Heart • Ability to fight infections (immune system) • Nervous system • Kidneys • Skeleton • Hormones These differences may affect your child’s growth, feeding, breathing, speaking, hearing, learning or mental health. Children with 22q duplication may not have differences in their facial features. They are also less likely to have other problems with their other body systems, although these differences are possible. They are more likely to have behavior and mental health problems. Are there other names for 22q disorders? All of these names have been replaced with “22q11.2-related disorders”: • Velocardiofacial syndrome (VCFS) • DiGeorge syndrome • Shprintzen syndrome • Conotruncal anomaly unusual face syndrome • Cayler cardiofacial syndrome • Catch 22 syndrome How is 22q11.2 deletion syndrome diagnosed? Diagnosis after birth Your doctor will check your child and look for the differences that are linked with 22q11.2-related disorders. Since the features of the conditions differ from child to child, a careful exam is important. Your doctor may recommend genetic tests to confirm their diagnosis. Doctors may order other tests or procedures to learn more about your child’s exact condition. For example, an ultrasound picture of their heart (echocardiogram) can show if they have any heart problems. How will I know if my child should have genetic testing? We will talk with you about the benefits and risks of genetic testing and explain test results. We can also give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment. Our genetic counselors also advise people about their chance of having another child with a similar condition. A person with the condition has a 50% chance in each pregnancy of passing it on to their child. 2 of 3 22q11.2-Related Disorders How are 22q-related disorders treated? To Learn More The effects of these conditions can vary greatly from child to child. We will • Craniofacial create a care plan specific to your child's needs. Because of the high rates of 206-987-2208 problems in the following areas, your child may need to see providers with • Ask your child’s special training in: healthcare provider • Audiology (hearing) • www.seattlechildrens.org /22q • Craniofacial pediatrics • Genetic counseling • Medical genetics • Neurodevelopmental (child development) • Nutrition Free Interpreter • Otolaryngology (ears, nose and throat) Services • Psychiatry and Behavioral Medicine • In the hospital, ask • Social work your child’s nurse. • Speech and language pathology • From outside the hospital, call the Your child may also need to see other specialists at Seattle Children’s. This toll-free Family will depend on their medical problems and test results. For more information, Interpreting Line visit www.seattlechildrens.org/22q. 1-866-583-1527. Tell the interpreter the name or extension you need. Seattle Children’s offers interpreter services for Deaf, hard of hearing or non-English speaking patients, family members and legal representatives free of charge. Seattle Children’s will make this information available in alternate formats upon request. Call the Family Resource Center at 206-987-2201. 9/18 This handout has been reviewed by clinical staff at Seattle Children’s. However, your child’s needs are unique. Before you act PE2917 or rely upon this information, please talk with your child’s healthcare provider. © 2018 Seattle Children’s, Seattle, Washington. All rights reserved. Craniofacial 3 of 3 .
Load more

Recommended publications
  • Identification and Characterization of a Novel 43-Bp Deletion Mutation of The
    Liu et al. BMC Medical Genetics (2018) 19:61 https://doi.org/10.1186/s12881-018-0567-z CASE REPORT Open Access Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report Gang Liu†, Dingyuan Ma†, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang* and Zhengfeng Xu* Abstract Background: Wilson’s disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson’s disease. Case presentation: We describe a male case of Wilson’s disease diagnosed at 10 years after routine biochemical test that showed low serum ceruloplasmin levels and Kayser–Fleischer rings in both corneas. Analysis of the ATP7B gene revealed compound heterozygous mutations in the proband, including the reported c.3517G > A mutation and a novel c.532_574del mutation. The c.532_574del mutation covered a 43-bp region in exon 2, and resulted in a frameshift mutation (p.Leu178PhefsX10). By base sequence analysis, two microhomologies (TCTCA) were observed on both deletion breakpoints in the ATP7B gene. Meanwhile, the presence of some sequence motifs associated with DNA breakage near the deletion region promoted DNA strand break. Conclusions: By comparison, a replication-based mechanism named fork stalling and template switching/ microhomology-mediated break-induced replication (FoSTeS/MMBIR) was used to explain the formation of this novel deletion mutation. Keywords: Wilson’s disease, ATP7B, Novel mutation, FoSTeS/MMBIR Background ATP7B protein dysfunction, which in turn causes accumu- Wilson’s disease (WD, OMIM #277900), an autosomal lation of copper in the liver, brain, kidneys and corneas, recessive disorder characterized by abnormal copper ac- with a wide range of clinical symptoms, including hepatic cumulation and related toxicities, is caused by mutations disorders, neuronal degeneration of the brain, and Kayser- in the ATP7B gene (OMIM *606882) [1].
    [Show full text]
  • Nf1 Gene Deletion
    NF1 GENE DELETION NF1 GENE DELETION This resource is for families who have a deletion of the NF1 gene causing neurofi bromatosis type 1 (NF1). This is also referred to as NF1 microdeletion. WHAT ARE CHROMOSOMES, DELETION GENES AND MUTATIONS? Chromosomes are the packages of our genetic information. Within each cell of the body are 46 chromosomes arranged in 23 pairs. One chromosome in each pair is inherited from the Source: U.S. National Library of Medicine mother and the other from the father. The pairs are numbered WHAT IS AN NF1 MICRODELETION? by size. The number 1 chromosome When the entire NF1 gene is missing, it is referred pair is the largest and the number 22 is to as NF1 gene deletion or NF1 microdeletion. the smallest. The last pair of chromosomes Approximately 5% of individuals with a diagnosis (sex chromosomes) help to determine whether of NF1 have a deletion that includes the entire NF1 an individual is a male or a female. Genes are gene. Other than the NF1 gene, there are usually small areas along the chromosomes, and are other nearby genes that are also missing. the body’s blueprints or instructions. We have approximately 20,000 genes that control how we WHAT DOES IT MEAN TO HAVE AN NF1 grow and develop and what we look like. Each MICRODELETION? gene can be thought of as a sentence made up of In addition to the NF1 gene, individuals with NF1 four letters (A, T, C and G). Mutations (also called microdeletion typically have other genes in the pathogenic variants), are changes in a gene’s region of chromosome 17 deleted.
    [Show full text]
  • Status of the P53, P16, RB1, and HER-2 Genes and Chromosomes 3
    367 ORIGINAL ARTICLE J Clin Pathol: first published as 10.1136/jcp.2004.021154 on 24 March 2005. Downloaded from Status of the p53, p16, RB1, and HER-2 genes and chromosomes 3, 7, 9, and 17 in advanced bladder cancer: correlation with adjacent mucosa and pathological parameters M Gallucci, F Guadagni, R Marzano, C Leonardo, R Merola, S Sentinelli, E M Ruggeri, R Cantiani, I Sperduti, F de la Iglesia Lopez, A M Cianciulli ............................................................................................................................... J Clin Pathol 2005;58:367–371. doi: 10.1136/jcp.2004.021154 Aims: To evaluate a panel of well known genetic alterations for frequency of changes in bladder cancer that could be considered genomic instability determinants or adjunctive prognostic predictors. Methods: Fluorescence in situ hybridisation analysis was performed to evaluate chromosomes 3, 7, 9, and 17 and the 9p21 (p16), 17p13.1 (p53), 13q14 (RB1), and 17q11.2 (HER-2) chromosomal loci in 48 See end of article for muscle invasive bladder cancer specimens and the adjacent normal mucosa. authors’ affiliations Results: There were significant differences between the frequency of chromosome 7 monosomy/polysomy ....................... and 17 monosomy in the two groups (tumours and adjacent mucosa) (p = 0.004, p = 0.037, and Correspondence to: p = 0.015, respectively). There were no differences in the frequency of gene deletions between tumours Dr A M Cianciulli, Clinical and the adjacent mucosa. 17q11.2 amplification was found in 14.5% of tumours examined, but not in the Pathology, Regina Elena non-malignant epithelium. Chromosome 3, 7, and 17 monosomy and the RB1 heterozygous deletion were Cancer Institute, IFO, Via Elio Chianesi, 53, 00144 significantly associated with stage T3–4 (p = 0.03, p = 0.04, p = 0.04, and p = 0.03, respectively).
    [Show full text]
  • (Lcrs) in 22Q11 Mediate Deletions, Duplications, Translocations, and Genomic Instability: an Update and Literature Review Tamim H
    review January/February 2001 ⅐ Vol. 3 ⅐ No. 1 Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review Tamim H. Shaikh, PhD1, Hiroki Kurahashi, MD, PhD1, and Beverly S. Emanuel, PhD1,2 Several constitutional rearrangements, including deletions, duplications, and translocations, are associated with 22q11.2. These rearrangements give rise to a variety of genomic disorders, including DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes (DGS/VCFS/CAFS), cat eye syndrome (CES), and the supernumerary der(22)t(11;22) syndrome associated with the recurrent t(11;22). Chromosome 22-specific duplications or low copy repeats (LCRs) have been directly implicated in the chromosomal rearrangements associated with 22q11.2. Extensive sequence analysis of the different copies of 22q11 LCRs suggests a complex organization. Examination of their evolutionary origin suggests that the duplications in 22q11.2 may predate the divergence of New World monkeys 40 million years ago. Based on the current data, a number of models are proposed to explain the LCR-mediated constitutional rearrangements of 22q11.2. Genetics in Medicine, 2001:3(1):6–13. Key Words: duplication, evolution, 22q11, deletion and translocation Although chromosome 22 represents only 2% of the haploid The 22q11.2 deletion syndrome, which includes DGS/ human genome,1 recurrent, clinically significant, acquired, VCFS/CAFS, is the most common microdeletion syndrome. and somatic
    [Show full text]
  • Koolen-De Vries Syndrome: Clinical Report of an Adult and Literature Review
    Case Report Cytogenet Genome Res 2016;150:40–45 Accepted: July 25, 2016 DOI: 10.1159/000452724 by M. Schmid Published online: November 17, 2016 Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review Claudia Ciaccio Chiara Dordoni Marco Ritelli Marina Colombi Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia , Italy Key Words Koolen-de Vries syndrome (KdS, also known as 17q21.31 · Deletion · Joint hypermobility · KANSL1 17q21.31 microdeletion syndrome, OMIM #610443) is a rare genetic disorder (prevalence 1/16,000) characterized by typical facial dysmorphisms, cardiac and renal defects, Abstract developmental delay, and intellectual disability of vari- Koolen-de Vries syndrome (KdS) is a rare genetic condition able level [Tan et al., 2009]. The disorder was initially de- characterized by typical facial dysmorphisms, cardiac and re- scribed as a form of mental retardation caused by a 440– nal defects, skeletal anomalies, developmental delay, and in- 680-kb deletion in the 17q21.31 region, typically encom- tellectual disability of variable level. It is caused by a 440– passing 5 genes: CRHR1 (OMIM 122561), MAPT 680-kb deletion in the 17q21.31 region, encompassing (OMIM 157140), IMP5 (OMIM 608284), STH (OMIM CRHR1 , MAPT , IMP5 , STH , and KANSL1 , or by an intragenic 607067), and KANSL1 (OMIM 612452)* [Koolen et al., KANSL1 mutation. The majority of the patients reported are 2006]. Recently,* it has been shown* that haploinsufficien- pediatric or young adults, and long-term studies able to de- cy* of KANSL1 by itself, due to single* nucleotide variants fine the prognosis of the disease are lacking.
    [Show full text]
  • An Overview of the Independent Histories of the Human Y Chromosome and the Human Mitochondrial Chromosome
    The Proceedings of the International Conference on Creationism Volume 8 Print Reference: Pages 133-151 Article 7 2018 An Overview of the Independent Histories of the Human Y Chromosome and the Human Mitochondrial chromosome Robert W. Carter Stephen Lee University of Idaho John C. Sanford Cornell University, Cornell University College of Agriculture and Life Sciences School of Integrative Plant Science,Follow this Plant and Biology additional Section works at: https://digitalcommons.cedarville.edu/icc_proceedings DigitalCommons@Cedarville provides a publication platform for fully open access journals, which means that all articles are available on the Internet to all users immediately upon publication. However, the opinions and sentiments expressed by the authors of articles published in our journals do not necessarily indicate the endorsement or reflect the views of DigitalCommons@Cedarville, the Centennial Library, or Cedarville University and its employees. The authors are solely responsible for the content of their work. Please address questions to [email protected]. Browse the contents of this volume of The Proceedings of the International Conference on Creationism. Recommended Citation Carter, R.W., S.S. Lee, and J.C. Sanford. An overview of the independent histories of the human Y- chromosome and the human mitochondrial chromosome. 2018. In Proceedings of the Eighth International Conference on Creationism, ed. J.H. Whitmore, pp. 133–151. Pittsburgh, Pennsylvania: Creation Science Fellowship. Carter, R.W., S.S. Lee, and J.C. Sanford. An overview of the independent histories of the human Y-chromosome and the human mitochondrial chromosome. 2018. In Proceedings of the Eighth International Conference on Creationism, ed. J.H.
    [Show full text]
  • Trisomy 5P Inverted Duplication & Deletion of 5Pftnwdraft3
    Trisomy 5p: Inverted duplication and deletion of 5p rarechromo.org Inverted duplication with deletion of 5p Inverted duplication with deletion of 5p, known as inv dup del 5p, is a very rare genetic condition in which there is an extra copy of part of the genetic material (DNA) that makes up the body’s 46 chromosomes, and a missing copy of another part. Like most other chromosome disorders, this usually affects development, and sometimes health and behaviour as well. It is likely that both the extra and missing parts of chromosome 5p have an effect, but a lot depends on their position and size. The precise effects of gaining material from a chromosome vary depending on how large the duplication is, how many genes it contains and what those genes do. The same applies to deletions. The effects may not be limited to the genes within the duplicated or deleted piece of chromosome because these genes may interact with other genes on the same chromosome or other chromosomes. Chromosomes usually come in pairs, and we inherit one chromosome from each parent. Of the 46 chromosomes, two are a pair of sex chromosomes: two Xs for a girl and an X and a Y for a boy. The remaining 44 chromosomes are grouped into 22 pairs and are numbered 1 to 22, approximately from largest to smallest. Each chromosome has a short (p) arm (from petit, the French for small) and a long (q) arm. The diagram below shows the short arm. Chromosome 5 Short (p) arm Bands Base pairs 0Mb 5Mb 10Mb 15Mb 20Mb 25Mb 30Mb 35Mb 40Mb 45Mb 48.4Mb Long (q) arm 2 People have 2 copies of chromosome 5 in most of their body cells.
    [Show full text]
  • Organization, Evolution and Function of Alpha Satellite Dna
    ORGANIZATION, EVOLUTION AND FUNCTION OF ALPHA SATELLITE DNA AT HUMAN CENTROMERES by M. KATHARINE RUDD Submitted in partial fulfillment of the requirements For the degree of Doctor of Philosophy Dissertation Advisor: Dr. Huntington F. Willard Department of Genetics CASE WESTERN RESERVE UNIVERSITY January, 2005 CASE WESTERN RESERVE UNIVERSITY SCHOOL OF GRADUATE STUDIES We hereby approve the dissertation of ______________________________________________________ candidate for the Ph.D. degree *. (signed)_______________________________________________ (chair of the committee) ________________________________________________ ________________________________________________ ________________________________________________ ________________________________________________ ________________________________________________ (date) _______________________ *We also certify that written approval has been obtained for any proprietary material contained therein. 1 Table of Contents Table of contents.................................................................................................1 List of Tables........................................................................................................2 List of Figures......................................................................................................3 Acknowledgements.............................................................................................5 Abstract................................................................................................................6
    [Show full text]
  • Early Fetal Presentation of Koolen-De Vries: Case Report with Literature Review
    European Journal of Medical Genetics xxx (2017) 1e5 Contents lists available at ScienceDirect European Journal of Medical Genetics journal homepage: http://www.elsevier.com/locate/ejmg Early fetal presentation of Koolen-de Vries: Case report with literature review abstract Keywords: Koolen-de Vries syndrome (MIM#610443) is a rare microdeletion syndrome involving the 17q21.31 Koolen-de Vries syndrome region, which was first described by Koolen in 2006. Clinical and behavioral characteristics have been 17q21.31 deletion extensively reported from more than 100 postnatal cases including infants, children and young adults. Prenatal array-CGH The syndrome is highly clinically heterogeneous, but the main features associate characteristic cranio- Neuropathology facial dysmorphism, heart defects, limb, skeletal, genito-urinary anomalies, along with intellectual Cytogenetics Mega corpus callosum disability with early childhood epilepsy and behavioral disturbances. Central nervous system malfor- mations usually consist in hydrocephalus and thin corpus callosum. We report herein an early fetal case with an apparently isolated abnormal corpus callosum diagnosed by ultrasonography, for which a medical termination of the pregnancy was achieved at 22 weeks of gestation. Postmortem examination displayed facial dysmorphism consisting of hypertelorism, short philtrum and flat and broad nose, cleft palate and left duplex ureter. Neuropathological examination revealed a mega corpus callosum that has never been reported so far in this syndrome. Array-CGH performed
    [Show full text]
  • The Deletion Stocks of Common Wheat
    The Deletion Stocks of Common Wheat T. R. Endo and B. S. Gill Chromosomal breaks occurred in the progeny of a common wheat (Tritlcum aes- tlvum L. em Thell; 2n = 6x = 42, genome formula AABBDD) cultivar Chinese Spring with a monosomic addition of an alien chromosome from Aegllops cyllndrlca Host (2n = 4x = 28, CCDD) or A. trlunclalls L. (2n = 4x = 28, UUCC) or a chromosomal segment from A. spettoldes Tausch (2n = 2x = 14, SS). We identified 436 deletions by C-banding. The deletion chromosomes were transmitted stably to the offspring. We selected deletion homozygotes in the progeny of the deletion heterozygotes and established homozygous lines for about 80% of the deletions. We failed to establish homozygous lines for most of the deletions In the short arm of chromo- some 2A and for all deletions in the short arm of chromosome 4B, because plants homozygous for these deletions were sterile. We could not obtain any homozygotes for larger deletions In the long arms of chromosomes 4A, 5A, 5B, and 5D. The deletion stocks showed variations in morphological, physiological, and biochemi- cal traits, depending on the size of their chromosomal deficiency, and are powerful tools for physical mapping of wheat chromosomes. The aneuploid stocks developed in a com- and a chromosome fragment from A. spel- mon wheat cultivar Chinese Spring are a toides were found recently to induce chro- powerful tool for genetic and breeding mosome mutations in Chinese Spring in studies of wheat (Sears 1954, 1966; Sears the same manner as the A. cylindrica chro- and Sears 1978). These stocks are im- mosome (Endo, unpublished data).
    [Show full text]
  • Basic Genetic Mechanisms— the Ways in Which the Cell Maintains, Replicates, Expresses, and Occasionally Improves the Genetic Information Carried in Its DNA
    BASIC GENETIC PART MECHANISMS II 4 DNA AND CHROMOSOMES 5 DNA REPLICATION, REPAIR, AND RECOMBINATION 6 HOW CELLS READ THE GENOME: FROM DNA TO PROTEIN 7 CONTROL OF GENE EXPRESSION The ribosome. The large subunit of the bacterial ribosome is shown here with the ribosomal RNA shown in gray and the ribosomal proteins in gold.The ribosome is the complex catalytic machine at the heart of protein synthesis. (From N. Ban et al., Science 289:905–920, 2000. © AAAS.) The nucleosome. The basic structural unit of all eucaryotic chromosomes is the nucleosome.The DNA double helix (gray) is wrapped around a core particle of histone proteins (colored) to create the nucleosome. Nucleosomes are spaced roughly 200 nucleotide pairs apart along the chromosomal DNA. (Reprinted by permission from K. Luger et al., Nature 389:251–260, 1997. © Macmillan Magazines Ltd.) 4 THE STRUCTURE AND FUNCTION DNA AND OF DNA CHROMOSOMAL DNA AND ITS PACKAGING IN THE CHROMATIN CHROMOSOMES FIBER THE GLOBAL STRUCTURE OF CHROMOSOMES Life depends on the ability of cells to store, retrieve, and translate the genetic instructions required to make and maintain a living organism. This hereditary information is passed on from a cell to its daughter cells at cell division, and from one generation of an organism to the next through the organism’s repro- ductive cells. These instructions are stored within every living cell as its genes, the information-containing elements that determine the characteristics of a species as a whole and of the individuals within it. As soon as genetics emerged as a science at the beginning of the twentieth century, scientists became intrigued by the chemical structure of genes.
    [Show full text]
  • The Symptom Profile and Experience of Children with Rare Life-Limiting Conditions
    The symptom profile and experience of children with rare life-limiting conditions: Perspectives of their families and key health professionals Document Title The symptom profile and experience of children with rare life-limiting conditions: Perspectives of their families and key health professionals Authors Cari Malcolm, Sally Adams, Gillian Anderson, Faith Gibson, Richard Hain, Anthea Morley, Liz Forbat. Publisher Cancer Care Research Centre, University of Stirling Publication Date 2011 Target Audience Paediatric palliative care staff, paediatric clinicians, policy-makers, service developers, families supporting children with life-limiting conditions. Funded By Children’s Hospice Association Scotland Key Words Advance care planning, Batten disease, expertise, extended family, family, Morquio disease, progressive life-limiting, relationships, Sanfilippo disease, siblings, symptoms. Contact Details www.cancercare.stir.ac.uk Tel: 01786 849260 Email: [email protected] Copyright This publication is copyright CCRC and may be reproduced free of charge in any format or medium. Any material used must be fully acknowledged, and the title of the publication, authors and date of publication specified. The symptom profile and experience of children with rare life- limiting conditions: Perspectives of their families and key health professionals Executive Summary Background Many non-malignant life-limiting conditions are individually extremely rare and little is known, even by professionals in the field, about the actual day-to-day symptomatology or the impact of these symptoms on the child and family. With little recorded in the literature regarding the symptoms that children with rare life-limiting conditions experience, and the associated impact of managing these symptoms on the wider family, an opportunity exists to widen the knowledge base in this area.
    [Show full text]