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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. -
Lab 17. Chromosomes and Karyotypes: How Do Two Physically Healthy Parents Produce a Child with Down Syndrome and a Second Child
Lab 17. Chromosomes and Karyotypes: How Do Two Physically Healthy Parents Produce a Child With Down Syndrome and a Second Child With Cri Du Chat Syndrome? Introduction Mendel’s model of inheritance is the basis for modern genetics. This important model can be broken down into four main ideas. First, and foremost, the fundamental unit of inheritance is the gene and alternative versions of a gene (alleles) account for the variation in inheritable characters. Second, an organism inherits two alleles for each character, one from each parent. Third, if the two alleles differ, then one is fully expressed and determines the nature of the specific trait (this version of the gene is called the dominant allele) while the other one has no noticeable effect (this version of the gene is called the recessive allele). Fourth, the two alleles for each character segregate (or separate) during gamete production. Therefore, an egg or a sperm cell only gets one of the two alleles that are present in the somatic cells of the organism. This idea is known as the law of segregation. It was brilliant (or lucky) that Mendel chose plant traits that turned out to have a relatively simple genetic basis. Each trait that he studied is determined by only one gene, and each of these genes only consists of two alleles. These conditions, however, are not met by all inheritable traits. The relationship between traits and genes is not always a simple one. In this investigation, you will use what you know about the relationship between traits and genes to explain how two children from the same family inherited two different genetic disorders. -
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 -
Williams Syndrome Specialized Health Needs Interagency Collaboration
SHNIC Factsheet: Williams Syndrome Specialized Health Needs Interagency Collaboration What is it? Williams syndrome (WS) is a random genetic mutation disorder that presents at birth, affecting both boys and girls equally. WS is caused by the deletion of genetic material from a specific region of chromosome 7. This disease is characterized by an array of medical problems that can range in severity and age of onset. However, all cases are characterized by dysmorphic facial features, cardiovascular disease, and developmental delay. These disabilities occur in conjunction with striking verbal abilities, highly social personalities, and an affinity for music. What are characteristics? Heart and blood vessel problems Low muscle tone and joint laxity Reflux Dental abnormalities Hypercalcemia Developmental Delays Hearing sensitivity Characteristic facial features: Kidney problems small upturned nose Hernias wide mouth Facial characteristics full lips Chronic ear infection small chin puffiness around the eyes Suggested school accommodations Most children with Williams Syndrome have some form of learning difficulties but they can significant- ly vary. As they age, you may notice the child struggling with concepts like spatial relations, numbers and abstract reasoning. Many children with WS appear scattered in their level of abilities across do- mains. Although a child with WS may be very social, remember to monitor their support systems and social interactions as they often have a difficult time understanding social cues. Physical/Medical -
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. -
Diseases of the Digestive System (KOO-K93)
CHAPTER XI Diseases of the digestive system (KOO-K93) Diseases of oral cavity, salivary glands and jaws (KOO-K14) lijell Diseases of pulp and periapical tissues 1m Dentofacial anomalies [including malocclusion] Excludes: hemifacial atrophy or hypertrophy (Q67.4) K07 .0 Major anomalies of jaw size Hyperplasia, hypoplasia: • mandibular • maxillary Macrognathism (mandibular)(maxillary) Micrognathism (mandibular)( maxillary) Excludes: acromegaly (E22.0) Robin's syndrome (087.07) K07 .1 Anomalies of jaw-cranial base relationship Asymmetry of jaw Prognathism (mandibular)( maxillary) Retrognathism (mandibular)(maxillary) K07.2 Anomalies of dental arch relationship Cross bite (anterior)(posterior) Dis to-occlusion Mesio-occlusion Midline deviation of dental arch Openbite (anterior )(posterior) Overbite (excessive): • deep • horizontal • vertical Overjet Posterior lingual occlusion of mandibular teeth 289 ICO-N A K07.3 Anomalies of tooth position Crowding Diastema Displacement of tooth or teeth Rotation Spacing, abnormal Transposition Impacted or embedded teeth with abnormal position of such teeth or adjacent teeth K07.4 Malocclusion, unspecified K07.5 Dentofacial functional abnormalities Abnormal jaw closure Malocclusion due to: • abnormal swallowing • mouth breathing • tongue, lip or finger habits K07.6 Temporomandibular joint disorders Costen's complex or syndrome Derangement of temporomandibular joint Snapping jaw Temporomandibular joint-pain-dysfunction syndrome Excludes: current temporomandibular joint: • dislocation (S03.0) • strain (S03.4) K07.8 Other dentofacial anomalies K07.9 Dentofacial anomaly, unspecified 1m Stomatitis and related lesions K12.0 Recurrent oral aphthae Aphthous stomatitis (major)(minor) Bednar's aphthae Periadenitis mucosa necrotica recurrens Recurrent aphthous ulcer Stomatitis herpetiformis 290 DISEASES OF THE DIGESTIVE SYSTEM Diseases of oesophagus, stomach and duodenum (K20-K31) Ill Oesophagitis Abscess of oesophagus Oesophagitis: • NOS • chemical • peptic Use additional external cause code (Chapter XX), if desired, to identify cause. -
Abstracts from the 50Th European Society of Human Genetics Conference: Electronic Posters
European Journal of Human Genetics (2019) 26:820–1023 https://doi.org/10.1038/s41431-018-0248-6 ABSTRACT Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters Copenhagen, Denmark, May 27–30, 2017 Published online: 1 October 2018 © European Society of Human Genetics 2018 The ESHG 2017 marks the 50th Anniversary of the first ESHG Conference which took place in Copenhagen in 1967. Additional information about the event may be found on the conference website: https://2017.eshg.org/ Sponsorship: Publication of this supplement is sponsored by the European Society of Human Genetics. All authors were asked to address any potential bias in their abstract and to declare any competing financial interests. These disclosures are listed at the end of each abstract. Contributions of up to EUR 10 000 (ten thousand euros, or equivalent value in kind) per year per company are considered "modest". Contributions above EUR 10 000 per year are considered "significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal and fetal echocardiography. The molecular karyotyping Genetics revealed a gain in 8p11.22-p23.1 region with a size of 27.2 Mb containing 122 OMIM gene and a loss in 8p23.1- E-P01.02 p23.3 region with a size of 6.8 Mb containing 15 OMIM Prenatal diagnosis in a case of 8p inverted gene. The findings were correlated with 8p inverted dupli- duplication deletion syndrome cation deletion syndrome. Conclusion: Our study empha- sizes the importance of using additional molecular O¨. Kırbıyık, K. M. Erdog˘an, O¨.O¨zer Kaya, B. O¨zyılmaz, cytogenetic methods in clinical follow-up of complex Y. -
Special Report
RARERARE PEDIATRICPEDIATRIC DISEASESDISEASES SPECIAL REPORT SELECTED ARTICLES Rare Diseases Pose a Pressing Challenge: Are State-by-State Differences in Newborn 02 09 Get the Diagnostic Work Done Swiftly Screening an Impediment or Asset? Rare Epileptic Encephalopathies: Neurodevelopmental Concerns May Emerge 05 21 Update on Directions in Treatment Later in Zika-exposed Infants EDITOR’S NOTE housands of rare diseases have been identified, but only T 35 core conditions are on the federal Recommended Uniform Screening Panel (RUSP). But the majority of states don’t screen for all 35 conditions. Read on to learn about the pros and cons of state-by- state differences in newborn screening for rare disorders. But newborn Catherine Cooper screening is not the only way to learn about a child’s rare disease. There Nellist is genetic screening, and now it is more widely available than ever. But how to make sense of that information? Certified genetic counselors will help, but health care providers need education about what to do when a rare disease is diagnosed. In this Rare Pediatric Diseases Special Report, there are resources for you as health care providers and for your patients provided by the National Institutes of Health and by the National Organization for Rare Disorders. Explore a synopsis of existing and emerging treatments of three rare epileptic encephalopathies that occur in infancy and early childhood— West syndrome, Lennox-Gastaut syndrome, and Dravet syndrome. Learn about important advancements in the treatment of three rare pediatric neuromuscular disorders—spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and X-linked myotubular myopathy (XLMTM)—and how improved quality of life and survival will challenge current EDITOR systems of transition care. -
Congenital Heart Disease and Chromossomopathies Detected By
Review Article DOI: 10.1590/0103-0582201432213213 Congenital heart disease and chromossomopathies detected by the karyotype Cardiopatias congênitas e cromossomopatias detectadas por meio do cariótipo Cardiopatías congénitas y anomalías cromosómicas detectadas mediante cariotipo Patrícia Trevisan1, Rafael Fabiano M. Rosa2, Dayane Bohn Koshiyama1, Tatiana Diehl Zen1, Giorgio Adriano Paskulin1, Paulo Ricardo G. Zen1 ABSTRACT Conclusions: Despite all the progress made in recent de- cades in the field of cytogenetic, the karyotype remains an es- Objective: To review the relationship between congenital sential tool in order to evaluate patients with congenital heart heart defects and chromosomal abnormalities detected by disease. The detailed dysmorphological physical examination the karyotype. is of great importance to indicate the need of a karyotype. Data sources: Scientific articles were searched in MED- LINE database, using the descriptors “karyotype” OR Key-words: heart defects, congenital; karyotype; Down “chromosomal” OR “chromosome” AND “heart defects, syndrome; trisomy; chromosome aberrations. congenital”. The research was limited to articles published in English from 1980 on. RESUMO Data synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood Objetivo: Realizar uma revisão da literatura sobre a group of lesions. Several researchers have evaluated the pres- relação das cardiopatias congênitas com anormalidades ence of chromosomal abnormalities detected by the karyo- cromossômicas detectadas por meio do exame de cariótipo. type in patients with congenital heart disease. However, Fontes de dados: Pesquisaram-se artigos científicos no most of the articles were retrospective studies developed in portal MEDLINE, utilizando-se os descritores “karyotype” Europe and only some of the studied patients had a karyo- OR “chromosomal” OR “chromosome” AND “heart defects, type exam. -
Looks Like Angelman Syndrome but Isn’T – What Is in the Differential?
R.C.P.U. NEWSLETTER Editor: Heather J. Stalker, M.Sc. Director: Roberto T. Zori, M.D. R.C. Philips Research and Education Unit Vol. XXII No. 1 A statewide commitment to the problems of mental retardation January 2011 R.C. Philips Unit ♦ Division of Pediatric Genetics, Box 100296 ♦ Gainesville, FL 32610 ♦ (352)294-5050 E Mail: [email protected]; [email protected] Website: http://www.peds.ufl.edu/divisions/genetics/newsletters.htm Looks like Angelman syndrome but isn’t – What is in the differential? Charles A. Williams, MD Division of Pediatric Genetics & Metabolism University of Florida Angelman syndrome Differential Diagnosis of Angelman syndrome (AS) Angelman syndrome is a neurobehavioral disorder characterized by Individuals with AS-like features often present with psychomotor delay and/or developmental delay, progressive microcephaly, ataxic gait, absence of seizures and the differential diagnosis can be broad, encompassing such speech, seizures and a characteristic behavioral phenotype which includes non-specific entities as cerebral palsy, static encephalopathy, autism and happy demeanor and spontaneous bouts of laughter. AS was originally mitochondrial encephalomyopathy. Tremulousness and jerky limb called the “Happy Puppet Syndrome” in its description by Harry Angelman in movements, seen in most individuals with AS may help distinguish it from 1965 in an attempt to describe the upheld hands, clumsy gait and happy these conditions (see table below for other helpful distinguishing features). demeanor of individuals with this condition. The incidence is estimated to be Specific syndromes that mimic AS are reviewed below. Table 1 provides a between 1 in 15,000 and 1 in 20,000 live births. -
Williams Syndrome (WS): Recent Research on Music and Sound
American Music Therapy Association 8455 Colesville Rd., Ste. 1000 • Silver Spring, Maryland 20910 Tel. (301) 589-3300 • Fax (301) 589-5175 • www.musictherapy.org Williams Syndrome (WS): Recent Research on Music and Sound STATEMENT OF PURPOSE Description: Music Therapy (MT) is the clinical and evidence-based use of music interventions to accomplish individualized goals within a therapeutic relationship by a credentialed professional who has completed an approved music therapy program. Although WS is a rare disease, MTs may have more contact with these clients since many people with WS have a strong affinity for music, melody and song. Parents of children with WS express a strong interest in adaptive music programs for their children. The aim of therapy is to help people with WS to optimize their talents and musical affinity in order to address multiple potential outcomes. MT sessions may include the use of active music making, singing, interactive music play, and improvisational techniques. MT may include both individual and group therapy. STANDARDIZATION: MT sessions are documented in a treatment plan and delivered in accordance with standards of practice. Music selections and certain active music making activities are modified for client preferences and individualized needs (i.e., song selection, musical instruments, and music may vary). REPLICATION: Yes; MT and music special education has been used with different settings, providers, and populations. Research replication in the area of music response and WS is growing. OUTCOMES: Improved global state, enhanced learning, general functioning, improved social functioning, and enhanced leisure time. OVERVIEW OF RESEARCH The prevalence rate for WS is estimated at 0.01% or about 36,266 people in the United States. -
Angelman Syndrome Clinical Management Guidelines
Management of Angelman Syndrome A Clinical Guideline Angelman Syndrome Guideline Development Group Angelman Syndrome Clinical Management Guidelines Contents Introduction 3 … to Angelman Syndrome 3 … to the Angelman Syndrome Guidelines Development project 3 … to the Angelman Syndrome Clinical Management Guidelines 3 Diagnosis of Angelman Syndrome 4 … Clinical Diagnosis 4 … Genetic Investigation 5 Recommendations for the Management of Angelman Syndrome 6 … Feeding and Diet 6 … Speech and Communication 12 … Development 7 … Dental and Drooling 13 … Seizures and CNS 8 … General health and Anaesthesia 14 … Sleep 9 … Scoliosis and Skeletal 15 … Vision and Hearing 10 … Sexual health and Puberty 16 … Behaviour 11 … Alternative therapies 17 Information for Parents 18 Bibliography 19 APPENDIX: Genetic Mechanisms in Angelman Syndrome 24 Acknowledgements 25 Angelman Syndrome Clinical Management Guidelines 2 Introduction... … to Angelman Syndrome (AS) Angelman syndrome is a neurodevelopmental disorder that occurs in 1 in 20-40,000 births. It is characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting. These include maternal deletion, paternal uniparental disomy, imprinting defects, and point mutations or small deletions within the UBE3A gene, which lies within this region (see Appendix: Genetic Mechanisms in AS, p.