Bone Marrow Karyotypes of Children with Nonlymphocytic Leukemia
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Diagnostic Investigations in Individuals with Mental Retardation: a Systematic Literature Review of Their Usefulness
European Journal of Human Genetics (2005) 13, 6–25 & 2005 Nature Publishing Group All rights reserved 1018-4813/05 $30.00 www.nature.com/ejhg REVIEW Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness Clara DM van Karnebeek1,2, Maaike CE Jansweijer2, Arnold GE Leenders1, Martin Offringa1 and Raoul CM Hennekam*,1,2 1Department of Paediatrics/Emma Children’s Hospital, Academic Medical Center, Amsterdam, The Netherlands; 2Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from original studies on the results with respect to detected significant anomalies (yield) of six major diagnostic investigations, and evaluate whether the yield differs depending on setting, MR severity, and gender. Results for cytogenetic studies showed the mean yield of chromosome aberrations in classical cytogenetics to be 9.5% (variation: 5.4% in school populations to 13.3% in institute populations; 4.1% in borderline- mild MR to 13.3% in moderate-profound MR; more frequent structural anomalies in females). The median yield of subtelomeric studies was 4.4% (also showing female predominance). For fragile X screening, yields were 5.4% (cytogenetic studies) and 2.0% (molecular studies) (higher yield in moderate-profound MR; checklist use useful). In metabolic investigations, the mean yield of all studies was 1.0% (results depending on neonatal screening programmes; in individual populations higher yield for specific metabolic disorders). Studies on neurological examination all showed a high yield (mean 42.9%; irrespective of setting, degree of MR, and gender). -
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. -
Aneuploidy of Chromosome 8 and C-MYC Amplification in Individuals from Northern Brazil with Gastric Adenocarcinoma
ANTICANCER RESEARCH 25: 4069-4074 (2005) Aneuploidy of Chromosome 8 and C-MYC Amplification in Individuals from Northern Brazil with Gastric Adenocarcinoma DANIELLE QUEIROZ CALCAGNO1, MARIANA FERREIRA LEAL1,2, SYLVIA SATOMI TAKENO2, PAULO PIMENTEL ASSUMPÇÃO4, SAMIA DEMACHKI3, MARÍLIA DE ARRUDA CARDOSO SMITH2 and ROMMEL RODRÍGUEZ BURBANO1,2 1Human Cytogenetics and Toxicological Genetics Laboratory, Department of Biology, Center of Biological Sciences, Federal University of Pará, Belém, PA; 2Discipline of Genetics, Department of Morphology, Federal University of São Paulo, São Paulo, SP; 3Department of Pathology and 4Surgery Service, João de Barros Barreto University Hospital, Federal University of Pará, Belém, PA, Brazil Abstract. Background: Gastric cancer is the third most second most important cause of death in the world (2). In frequent type of neoplasia. In northern Brazil, the State of Pará northern Brazil, the State of Pará presents a high incidence has a high incidence of this type of neoplasia. Limited data are of this type of neoplasia, and its capital, Belém, was ranked available so far on the genetic events involved in this disease. eleventh in number of gastric cancers per inhabitant among Materials and Methods: Dual-color fluorescence in situ all cities in the world with cancer records (2). Food factors hybridization (FISH) for the C-MYC gene and chromosome 8 may be related to the high incidence of this neoplasia in centromere was performed in 11 gastric adenocarcinomas. Pará, especially the high consumption of salt-conserved Results: All cases showed aneuploidy of chromosome 8 and food, the limited use of refrigerators and the low C-MYC amplification, in both the diffuse and the intestinal consumption of fresh fruit and vegetables (3). -
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. -
©Ferrata Storti Foundation
Haematologica 2000; 85:1207-1210 Acute Leukemias case of the month Cytogenetic characterization of acute myeloid leukemia in Shwachman's syndrome. A case report FRANCESCA R. SPIRITO, BARBARA CRESCENZI, CATERINA MATTEUCCI, MASSIMO F. MARTELLI, CRISTINA MECUCCI Hematology and Bone Marrow Transplantation Unit, University of Perugia, Italy ABSTRACT We report on a case of acute myeloid leukemia in a tion. A recent analysis of 21 patients with SDS 17-year old boy affected by Shwachman Diamond showed that the incidence of myelodysplasia syndrome (SDS). Conventional cytogenetics at diag- and transformation to acute myeloid leukemia nosis revealed an abnormal clone with complex 4 karyotypic changes including typical myeloid aber- is 33% and 24%, respectively. A few cases of rations, such as monosomy 5, tetrasomy of chro- acute lymphoblastic leukemia have also been 5-7 mosome 8, trisomy 9, and deletion of the short arm described as well as one case of a juvenile form of chromosome 12. The boy was treated with con- of chronic myeloid leukemia.8 When leukemia ventional chemotherapy and reached complete develops, due to the preceding bone marrow remission of leukemia, confirmed by cytogenetics failure, serious complications may be induced and fluorescence in situ hybridization. Nevertheless by chemotherapy and, because of the underly- he failed to regenerate normal marrow cellularity ing organ dysfunctions, these patients should and blood cell count. Cytogenetic information on be managed with extreme caution when treat- hematologic malignancies in SDS patients are dis- cussed. ed with allogeneic bone marrow transplanta- 9-13 ©2000; Ferrata Storti Foundation tion. We describe here the cytogenetic char- acterization and clinical course of an acute Key words: Shwachman’s syndrome, leukemia, cytogenetics myeloid leukemia occurring in a young patient affected by Shwachman's syndrome. -
Physical Assessment of the Newborn: Part 3
Physical Assessment of the Newborn: Part 3 ® Evaluate facial symmetry and features Glabella Nasal bridge Inner canthus Outer canthus Nasal alae (or Nare) Columella Philtrum Vermillion border of lip © K. Karlsen 2013 © K. Karlsen 2013 Forceps Marks Assess for symmetry when crying . Asymmetry cranial nerve injury Extent of injury . Eye involvement ophthalmology evaluation © David A. ClarkMD © David A. ClarkMD © K. Karlsen 2013 © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 1 Physical Assessment of the Newborn: Part 3 Bruising Moebius Syndrome Congenital facial paralysis 7th cranial nerve (facial) commonly Face presentation involved delivery . Affects facial expression, sense of taste, salivary and lacrimal gland innervation Other cranial nerves may also be © David A. ClarkMD involved © David A. ClarkMD . 5th (trigeminal – muscles of mastication) . 6th (eye movement) . 8th (balance, movement, hearing) © K. Karlsen 2013 © K. Karlsen 2013 Position, Size, Distance Outer canthal distance Position, Size, Distance Outer canthal distance Normal eye spacing Normal eye spacing inner canthal distance = inner canthal distance = palpebral fissure length Inner canthal distance palpebral fissure length Inner canthal distance Interpupillary distance (midpoints of pupils) distance of eyes from each other Interpupillary distance Palpebral fissure length (size of eye) Palpebral fissure length (size of eye) © K. Karlsen 2013 © K. Karlsen 2013 Position, Size, Distance Outer canthal distance -
The Cytogenetics of Hematologic Neoplasms 1 5
The Cytogenetics of Hematologic Neoplasms 1 5 Aurelia Meloni-Ehrig that errors during cell division were the basis for neoplastic Introduction growth was most likely the determining factor that inspired early researchers to take a better look at the genetics of the The knowledge that cancer is a malignant form of uncon- cell itself. Thus, the need to have cell preparations good trolled growth has existed for over a century. Several biologi- enough to be able to understand the mechanism of cell cal, chemical, and physical agents have been implicated in division became of critical importance. cancer causation. However, the mechanisms responsible for About 50 years after Boveri’s chromosome theory, the this uninhibited proliferation, following the initial insult(s), fi rst manuscripts on the chromosome makeup in normal are still object of intense investigation. human cells and in genetic disorders started to appear, fol- The fi rst documented studies of cancer were performed lowed by those describing chromosome changes in neoplas- over a century ago on domestic animals. At that time, the tic cells. A milestone of this investigation occurred in 1960 lack of both theoretical and technological knowledge with the publication of the fi rst article by Nowell and impaired the formulations of conclusions about cancer, other Hungerford on the association of chronic myelogenous leu- than the visible presence of new growth, thus the term neo- kemia with a small size chromosome, known today as the plasm (from the Greek neo = new and plasma = growth). In Philadelphia (Ph) chromosome, to honor the city where it the early 1900s, the fundamental role of chromosomes in was discovered (see also Chap. -
Severe Haemophilia a in a Preterm Girl With
Berendt et al. Italian Journal of Pediatrics (2020) 46:125 https://doi.org/10.1186/s13052-020-00892-7 CASE REPORT Open Access Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I) Agnieszka Berendt1* , Monika Wójtowicz-Marzec1, Barbara Wysokińska2 and Anna Kwaśniewska1 Abstract Background: Bleedings are more frequent in the population of preterm children than among those born at term, much less in older children. The reasons for such bleedings in preterms include plasma factor deficiencies, immaturity of small vessels in the germinal matrix region, prenatal hypoxia or sepsis. They affect the brain tissue, the gastrointestinal tract and the respiratory system, or are manifested by prolonged bleedings from injection sites. Haemophilia is a rare cause of haemorrhages in the neonatal period, and in the female population it is even seen as an extremely rare disorder. Its aetiology in girls is diverse: inheriting defective genes from their parents, skewed X inactivation or a single X chromosome. Case presentation: The article presents a case of a preterm girl born in the 28th week of pregnancy, who was diagnosed with severe haemophilia A stemming from the absence of the X chromosome. The girl’s father is healthy, but her mother’s brother suffers from haemophilia. On the second day of the child’s life, a prolonged bleeding from the injection site was observed. A coagulation profile revealed prolonged APTT which pointed to haemophilia A diagnosis. Moreover, a marked clinical dysmorphy, female sex and a negative family history on the father’s side led the treating team to extend the diagnostic procedures to encompass karyotype evaluation. -
Chromosome Abnormalities Identified in 457 Spontaneous Abortions And
Original Article doi: 10.5146/tjpath.2015.01303 Chromosome Abnormalities Identified in 457 Spontaneous Abortions and Their Histopathological Findings 457 Spontan Abortus Materyalinde Tespit Edilen Kromozomal Anomaliler ve Histopatolojik Bulguları Sezin YAKUT1, Havva Serap TORU2, Zafer ÇETİN3, Deniz ÖZEL4, Mehmet ŞİMŞEK5, İnanç MENDİLCİOĞLU5, Güven LÜLECİ1 Department of 1Medical Biology and Genetics, 2Pathology, 4Biostatistics and Medical Informatics and 5Obstetrics and Gynecology, Akdeniz University, School of Medicine, ANTALYA, TURKEY 3Department of Medical Biology and Genetics, SANKO University, School of Medicine, GAZİANTEP, TURKEY ABSTRACT ÖZ Objective: About 15% of clinically recognized pregnancies result Amaç: Klinik olarak gebeliklerin yaklaşık %15’i ilk trimesterde in spontaneous abortion in the first trimester and the vast majority abortus ile sonuçlanmakta olup büyük kısmında ise neden kromozom of these are the result of chromosome abnormalities. Studies of anormallikleridir. Çalışmalar göstermiştir ki ilk trimesterda abortusla chromosomal constitutions of first trimester spontaneous abortions sonuçlanan gebeliklerin %50’sinde kromozomal olarak karyotip have revealed that at least 50% of the abortions have an abnormal anomalileri görülmüştür. Çalışmada tek merkeze ait spontan abortus karyotype. In this study we aimed to report the single centre olgularındaki anomalileri sunmak amaçlandı. experience of anomalies detected in spontaneous abortions. Gereç ve Yöntem: Çalışmada tıbbi biyoloji ve genetik bölümümüze Material and Method: -
Early ACCESS Diagnosed Conditions List
Iowa Early ACCESS Diagnosed Conditions Eligibility List List adapted with permission from Early Intervention Colorado To search for a specific word type "Ctrl F" to use the "Find" function. Is this diagnosis automatically eligible for Early Medical Diagnosis Name Other Names for the Diagnosis and Additional Diagnosis Information ACCESS? 6q terminal deletion syndrome Yes Achondrogenesis I Parenti-Fraccaro Yes Achondrogenesis II Langer-Saldino Yes Schinzel Acrocallosal syndrome; ACLS; ACS; Hallux duplication, postaxial polydactyly, and absence of the corpus Acrocallosal syndrome, Schinzel Type callosum Yes Acrodysplasia; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome; Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) Acrodysostosis syndrome Yes ALD; AMN; X-ALD; Addison disease and cerebral sclerosis; Adrenomyeloneuropathy; Siemerling-creutzfeldt disease; Bronze schilder disease; Schilder disease; Melanodermic Leukodystrophy; sudanophilic leukodystrophy; Adrenoleukodystrophy Pelizaeus-Merzbacher disease Yes Agenesis of Corpus Callosum Absence of the corpus callosum; Hypogenesis of the corpus callosum; Dysplastic corpus callosum Yes Agenesis of Corpus Callosum and Chorioretinal Abnormality; Agenesis of Corpus Callosum With Chorioretinitis Abnormality; Agenesis of Corpus Callosum With Infantile Spasms And Ocular Anomalies; Chorioretinal Anomalies Aicardi syndrome with Agenesis Yes Alexander Disease Yes Allan Herndon syndrome Allan-Herndon-Dudley -
Trisomy 8 Mosaicism
Trisomy 8 Mosaicism rarechromo.org Sources Trisomy 8 Mosaicism Trisomy 8 mosaicism (T8M) is a chromosome disorder caused by and the presence of a complete extra chromosome 8 in some cells of References the body. The remaining cells have the usual number of 46 The information in chromosomes, with two copies of chromosome 8 in each cell. this guide is Occasionally T8M is called Warkany syndrome after Dr Josef drawn partly from Warkany, the American paediatrician who first identified the published medical condition and its cause in the 1960s. Full trisomy 8 – where all cells literature. The have an extra copy of chromosome 8 - is believed to be incompatible first-named with survival, so babies and children in whom an extra chromosome author and 8 is found are believed to be always mosaic (Berry 1978; Chandley publication date 1980; Jordan 1998; Karadima 1998). are given to allow you to look for the Genes and chromosomes abstracts or The human body is made up of trillions of cells. Most of the cells original articles contain a set of around 20,000 different genes; this genetic on the internet in information tells the body how to develop, grow and function. Genes PubMed are carried on structures called chromosomes, which carry the (www.ncbi.nlm. genetic material, or DNA, that makes up our genes. nih.gov/pubmed). If you wish, you Chromosomes usually come in pairs: one chromosome from each can obtain most parent. Of these 46 chromosomes, two are a pair of sex articles from chromosomes: XX (a pair of X chromosomes) in females, and XY Unique. -
Clinical Significance of Trisomy 8 That Emerges During Therapy in Chronic
OPEN Citation: Blood Cancer Journal (2016) 6, e490; doi:10.1038/bcj.2016.96 www.nature.com/bcj LETTER TO THE EDITOR Clinical significance of trisomy 8 that emerges during therapy in chronic myeloid leukemia Blood Cancer Journal (2016) 6, e490; doi:10.1038/bcj.2016.96; We focus on the karyotype11 at the time ACAs initially emerge. published online 4 November 2016 Cases with inadequate clinical information were excluded. In 2013 CML patients, 37 patients developed +8 as the sole additional chromosomal abnormality. Of note, cases with +8 in Ph-negative Chronic myeloid leukemia (CML) is defined by t(9;22)(q34;q11), a cells are not considered as ACAs and thus were not included. genetic abnormality producing BCR-ABL1 fusion on derivative A summary of these 37 patients is illustrated in Figure 1a. In detail, chromosome 22.1 At cytogenetic level, t(9;22)(q34;q11) is the sole 6 patients had +8 at the time of initial CML diagnosis and 31 abnormality in over 90% of patients in chronic phase (CP). As the patients developed +8 during therapy. Among these 31 patients disease progresses to accelerated phase (AP) and blast phase (BP), with +8 emerging during therapy, 28 had +8 as the only feature of clonal evolution occurs commonly with the emergence of disease acceleration, whereas the remaining 3 had other additional cytogenetic abnormalities (ACAs). Approximately 30% concurrent features of disease progression, manifested as of patients with CML-AP and 70–80% of patients with CML-BP increased blasts (30, 22 and 76% blasts, respectively). To eliminate have ACAs.2–4 Among various ACAs, trisomy 8 (+8) and an extra the confounding impact of increased blasts, we excluded these 3 copy of philadelphia chromosome (Ph) are most common.5,6 patients and focused on the 28 patients who had +8 only without Different ACAs have been shown to be associated with different any other features of AP.