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Newborn Screening for X-Linked Adrenoleukodystrophy: Information for Parents
Newborn Screening for X-linked Adrenoleukodystrophy: Information for Parents Baby girl with ABCD1 gene mutation What is newborn screening? the symptoms of ALD during childhood. Rarely, some women who are carriers of ALD develop mild symptoms as adults. It Newborn screening involves laboratory testing on a small is important for your family to meet with a genetic counselor sample of blood collected from newborns’ heels. Every state to talk about the genetics of ALD and implications for other has a newborn screening program to identify infants with rare family members. disorders, which would not usually be detected at birth. Early diagnosis and treatment of these disorders often prevents Why do only boys have ALD? serious complications. Only boys have ALD because it is caused by a mutation in What is adrenoleukodystrophy (ALD)? a gene (ABCD1) on the X chromosome, called “X-linked inheritance.” Males only have one X chromosome so they have ALD is one of over 40 disorders included in newborn screening one ABCD1 gene. Males with a nonfunctioning ABCD1 gene in New York State. It is a rare genetic disorder. People with have ALD. Females have 2 X chromosomes, so they have two ALD are unable to breakdown a component of food called ABCD1 genes. Females with one ABCD1 gene mutation will very long chain fatty acids (VLCFA). If VLCFA are not broken be carriers. When a mother is a carrier of ALD, each son has a down, they build up in the body and cause symptoms. 50% chance of inheriting the disorder and each daughter has a 50% chance of being a carrier. -
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. -
Genes in Eyecare Geneseyedoc 3 W.M
Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease. -
Mosaic Tetrasomy 9P at Amniocentesis: Prenatal Diagnosis, Molecular Cytogenetic Characterization, and Literature Review
Taiwanese Journal of Obstetrics & Gynecology 53 (2014) 79e85 Contents lists available at ScienceDirect Taiwanese Journal of Obstetrics & Gynecology journal homepage: www.tjog-online.com Short Communication Mosaic tetrasomy 9p at amniocentesis: Prenatal diagnosis, molecular cytogenetic characterization, and literature review Chih-Ping Chen a,b,c,d,e,f,*, Liang-Kai Wang a, Schu-Rern Chern b, Peih-Shan Wu g, Yu-Ting Chen b, Yu-Ling Kuo h, Wen-Lin Chen a, Meng-Shan Lee a, Wayseen Wang b,i a Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan b Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan c Department of Biotechnology, Asia University, Taichung, Taiwan d School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan e Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan g Gene Biodesign Co. Ltd, Taipei, Taiwan h Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan i Department of Bioengineering, Tatung University, Taipei, Taiwan article info abstract Article history: Objective: This study was aimed at prenatal diagnosis of mosaic tetrasomy 9p and reviewing the Accepted 17 December 2013 literature. Materials and methods: A 37-year-old woman underwent amniocentesis at 20 weeks’ gestation because Keywords: of advanced maternal age and fetal ascites. Cytogenetic analysis of cultured amniocytes revealed 21.4% amniocentesis (6/28 colonies) mosaicism for a supernumerary i(9p). Repeat amniocentesis was performed at 23 weeks’ mosaicism gestation. Array comparative genomic hybridization, interphase fluorescence in situ hybridization, and supernumerary isochromosome 9p quantitative fluorescent polymerase chain reaction were applied to uncultured amniocytes, and con- tetrasomy 9p ventional cytogenetic analysis was applied to cultured amniocytes. -
CYTOGENETICS: Rotation Director: Robert Zori, M
CYTOGENETICS: Rotation director: Roberto Zori, M.D. 1. Description of the rotations: Training in cytogenetics involves training in I) prenatal and medical cytogenetics, II) cancer cytogenetics, and III) pediatric pathology. The dedicated 4-week cytogenetics rotation involves 3 weeks art the R. C. Philips Cytogenetics Laboratory and 1 wee of seminars held on the UF Health Science Center campus. At the R.C. Philips Cytogenetics Laboratory at Tacachale State Home (Gainesville, FL) residents are oriented to the basic laboratory methods used to construct and interpret karyotypes. This laboratory focuses on prenatal karyotypes and medical karyotypes for syndromic diagnosis (e.g., Down Syndrome) as well as cancer diagnosis (Competency #2: Medical Knowledge). Molecular techniques are employed such as florescent in situ hybridization (FISH). The residents learn to interpret the resulting karyotype and construct consultative reports. Residents will then be able to correlate this data with the clinical history and physical examination through a review of the patient's on-line medical record (OLMR), chart or by contacting the clinical service. Seminar topics include: Introduction to genetics, modes of inheritance, techniques, syndromes, and cytogenetics (Competency #2: Medical Knowledge). The objective of these seminars is to discuss nomenclature and classic genetic syndromes involving chromosomal disorders. At the conclusion of the rotation, each resident will be expected to present a seminar to the pathology faculty and residents on a topic that the resident found interesting in cytogenetics (Competencies #3: Practice-Based Learning and Improvement, #4: Communication, and #5 Professionalism). These experiences are supplemented by 1) directed readings, and 2) periodic lectures on the topic cytogenetics. -
Tetrasomy 9P Syndrome in a Filipino Infant
CASE REPORT Tetrasomy 9p Syndrome in a Filipino Infant Ebner Bon G. Maceda,1,2 Erena S. Kasahara,3 Edsel Allan G. Salonga,2 Myrian R. Dela Cruz2 and Leniza De Castro-Hamoy1,2 1Division of Clinical Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila 2Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila 3Division of Newborn Medicine, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila ABSTRACT Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos. Key Words: Tetrasomy 9p, isochromosome, hypertelorism, bulbous nose INTRODUCTION Tetrasomy 9p is a broad term used to describe the presence of a supernumerary chromosome of the short arm of chromosome 9. In more specific terms, the presence of 2 extra copies of 9p arms can be either isodicentric or pseudodicentric. -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Mackenzie's Mission Gene & Condition List
Mackenzie’s Mission Gene & Condition List What conditions are being screened for in Mackenzie’s Mission? Genetic carrier screening offered through this research study has been carefully developed. It is focused on providing people with information about their chance of having children with a severe genetic condition occurring in childhood. The screening is designed to provide genetic information that is relevant and useful, and to minimise uncertain and unclear information. How the conditions and genes are selected The Mackenzie’s Mission reproductive genetic carrier screen currently includes approximately 1300 genes which are associated with about 750 conditions. The reason there are fewer conditions than genes is that some genetic conditions can be caused by changes in more than one gene. The gene list is reviewed regularly. To select the conditions and genes to be screened, a committee comprised of experts in genetics and screening was established including: clinical geneticists, genetic scientists, a genetic pathologist, genetic counsellors, an ethicist and a parent of a child with a genetic condition. The following criteria were developed and are used to select the genes to be included: • Screening the gene is technically possible using currently available technology • The gene is known to cause a genetic condition • The condition affects people in childhood • The condition has a serious impact on a person’s quality of life and/or is life-limiting o For many of the conditions there is no treatment or the treatment is very burdensome for the child and their family. For some conditions very early diagnosis and treatment can make a difference for the child. -
Psykisk Utviklingshemming Og Forsinket Utvikling
Psykisk utviklingshemming og forsinket utvikling Genpanel, versjon v03 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC >x10 Andel av genet som har blitt lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering x10 er forventet dekning; faktisk dekning vil variere. Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AAAS 13666 NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AARS 20 NM_001605.2 100% Charcot-Marie-Tooth disease, axonal, type 2N OMIM Epileptic encephalopathy, early infantile, 29 OMIM AASS 17366 NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCB11 42 NM_003742.2 100% Cholestasis, benign recurrent intrahepatic, 2 OMIM Cholestasis, progressive familial intrahepatic 2 OMIM ABCB7 48 NM_004299.5 100% Anemia, sideroblastic, with ataxia OMIM ABCC6 57 NM_001171.5 93% Arterial calcification, generalized, of infancy, 2 OMIM Pseudoxanthoma elasticum OMIM Pseudoxanthoma elasticum, forme fruste OMIM ABCC9 60 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 61 NM_000033.3 77% Adrenoleukodystrophy OMIM Adrenomyeloneuropathy, adult OMIM ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 21396 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 21497 NM_014049.4 99% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM 89 NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS 90 NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL 92 NM_000018.3 100% VLCAD -
Prevalence of Amblyopia in Congenital Blepharoptosis: a Systematic Review and Meta-Analysis
Int J Ophthalmol, Vol. 12, No. 7, Jul.18, 2019 www.ijo.cn Tel: 8629-82245172 8629-82210956 Email: [email protected] ·Meta-Analysis· Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis Jia-Ying Zhang1,2, Xiao-Wei Zhu1,2, Xia Ding1,2, Ming Lin1,2, Jin Li1,2 1Department of Ophthalmology, Shanghai Ninth People’s and management of amblyopia should be integral to the Hospital, Shanghai Jiao Tong University School of Medicine, treatment of congenital ptosis. Shanghai 200011, China ● KEYWORDS: amblyopia; congenital ptosis; blepharophimosis; 2Shanghai Key Laboratory of Orbital Diseases and Ocular systematic review Oncology, Shanghai 200011, China DOI:10.18240/ijo.2019.07.21 Correspondence to: Jin Li. Department of Ophthalmology, Shanghai Ninth Peolple’s Hospital, Shanghai Jiao Tong Citation: Zhang JY, Zhu XW, Ding X, Lin M, Li J. Prevalence of University School of Medicine, No.639, Zhizaoju Road, amblyopia in congenital blepharoptosis: a systematic review and Shanghai 200011, China. [email protected] Meta-analysis. Int J Ophthalmol 2019;12(7):1187-1193 Received: 2018-09-25 Accepted: 2019-03-05 INTRODUCTION Abstract ongenital blepharoptosis is an eyelid disorder that ● AIM: To conduct a systematic review and Meta-analysis of C is characterized by an involuntary drooping of the the published literature to evaluate the pooled prevalence upper eyelid since birth. Etiologically, myogenic factors are rate of amblyopia in patients with congenital ptosis. most common, referring to dysgenesis or weakness of the ● METHODS: We searched the PubMed, Embase, the levator muscle and sometimes the superior rectus muscle. Cochrane Central Register of Controlled Trials, China The etiological subtypes of congenital ptosis include simple National Knowledge Infrastructure, Wanfang Data, and congenital ptosis, blepharophimosis-ptosis-epicanthus inversus Chongqing VIP databases for studies reporting the syndrome (BPES), Marcus Gunn jaw-winking syndrome prevalence of amblyopia in patients with congenital ptosis. -
PG Series Ophthalmology Buster
PG Series Ophthalmology Buster PG Series Ophthalmology Buster E Ahmed Formerly Head, Department of Ophthalmology Calcutta National Medical College Consultant, Eye Care and Research Centre Kolkata JAYPEE BROTHERS MEDICAL PUBLISHERS (P) LTD New Delhi Published by Jitendar P Vij Jaypee Brothers Medical Publishers (P) Ltd B-3, EMCA House, 23/23B Ansari Road, Daryaganj New Delhi 110 002, India Phones: +91-11-23272143, +91-11-23272703, +91-11-23282021, +91-11-23245672, Rel: 32558559 Fax: +91-11-23276490, +91-11-23245683 e-mail: [email protected] Visit our website: www.jaypeebrothers.com Branches • 2/B, Akruti Society, Jodhpur Gam Road Satellite, Ahmedabad 380 015 Phones: +91-079-26926233, Rel: +91-079-32988717, Fax: +91-079-26927094 e-mail: [email protected] • 202 Batavia Chambers, 8 Kumara Krupa Road, Kumara Park East, Bangalore 560 001 Phones: +91-80-22285971, +91-80-22382956, Rel: +91-80-32714073, Fax: +91-80-22281761 e-mail: [email protected] • 282 IIIrd Floor, Khaleel Shirazi Estate, Fountain Plaza, Pantheon Road, Chennai 600 008 Phones: +91-44-28193265, +91-44-28194897, Rel: +91-44-32972089 Fax: +91-44-28193231 e-mail: [email protected] • 4-2-1067/1-3, 1st Floor, Balaji Building, Ramkote Cross Road, Hyderabad 500 095 Phones: +91-40-66610020, +91-40-24758498, Rel:+91-40-32940929 Fax:+91-40-24758499, e-mail: [email protected] • No. 41/3098, B & B1, Kuruvi Building, St. Vincent Road, Kochi 682 018, Kerala Phones: +91-0484-4036109, +91-0484-2395739, +91-0484-2395740 e-mail: [email protected] • 1-A Indian Mirror Street, Wellington Square, Kolkata 700 013 Phones: +91-33-22451926, +91-33-22276404, +91-33-22276415, Rel: +91-33-32901926 Fax: +91-33-22456075, e-mail: [email protected] • 106 Amit Industrial Estate, 61 Dr SS Rao Road, Near MGM Hospital, Parel, Mumbai 400 012 Phones: +91-22-24124863, +91-22-24104532, Rel: +91-22-32926896 Fax: +91-22-24160828, e-mail: [email protected] • “KAMALPUSHPA” 38, Reshimbag, Opp. -
Tests Performed Through Our International Collaboration
Tests performed through our international collaboration Molecular Studies for Inborn Errors of Metabolism A Inborn Errors of Metabolism Defective Gene 1 Acyl - Co A oxidase deficiency ACOX 1 2 Argininosuccinate lyase deficiency ASL 3 Aromatic L – amino acid decarboxylase (AADC) DDC Deficiency 4 Carnitine – acylcarnitine translocase (CACT) CACT Deficiency 5 Primary (systemic) carnitine deficiency OCTN2 6 Carnitine palmitoyltransferase I (CPT1) CPT1A 7 Carnitine palmitoyltransferase 2 (CPT2) CPT2 8 CHILD Syndrome NSDHL 9 Conradi – Hunermann – Happle syndrome EBP (CDPX2) 10 D – Bifunctional protein (DBP) Deficiency DBP, MFE2 11 Desmosterolosis DHCR24 12 Dihydropyrimidinase (DHP) Deficiency DPYS 13 Dihydropyrimidine dehydrogenase (DPD) DPYD Deficiency 14 Ethylmalonaciduria ETHE1 (Ethylmalonic encephalopathy) 15 Fructose intolerance, hereditary ALDOB 16 Galactosemia, classic GALT 17 Galactokinase deficiency GALK1 18 Glutaric aciduria type I (Glutaryl – Co A GCDH dehydrogenase deficiency 19 Glycogen storage disease 0 GYS2 20 Greenberg skeletal dysplasia LBR (Sterol – delta 14 reductase deficiency) 21 GTP cyclohydrolase I deficiency GCH1 22 Hydroxyacyl – Co A dehydrogenase deficiency HADH2 (2 – Methyl – 3 – hydroxybutyryl – CoA dehydrogenase deficiency) 23 Hyper Ig D Syndrome MVK (Mevalonate Kinase deficiency) 24 Hyperoxaluria type I AGXT 25 Isovaleric acidemia IVD 26 Lathosterolosis SC5DL 27 3 – methylglutaconicaciduria type I (3 – AUH methylglutaconyl – CoA hydratase deficiency) 28 Medium – chain – acyl – Co A dehydrogenase ACADM (MCAD) Deficiency