DOCSLIB.ORG

Monosomy 22 with Mosaicism References SUMMARY a 2-Year-Old Male Child with Mosai- Rethore MO, Couturier J, Carpentier S, Ferrand J, Lejeune J

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Monosomy 22 with Mosaicism References SUMMARY a 2-Year-Old Male Child with Mosai- Rethore MO, Couturier J, Carpentier S, Ferrand J, Lejeune J J Med Genet: first published as 10.1136/jmg.18.1.71 on 1 February 1981. Downloaded from Case reports 71 has been observed in humans,11-13 and this topic has 6 Fryns JP, Van Eygen M, Tanghe W, Van den Berghe A. Partial trisomy 14q due to familial t(14q-,1 lq+) trans- been considered theoretically with particular regard locations. Hum Genet 1977;37:105-10. to mouse chromosomes.14 A similar scheme of 7 Trunca C, Opitz JM. Pericentric inversion of chromosome dissociation and isochromosome formation was 14 and the risk of partial duplication of 14q(14q21-* proposed by Vianna-Morgante and Nunesmaia15 to 14qter). Am JMed Genet 1977;1:217-28. 8 Boue A, Boue J. Chromosome abnormalities and explain the production of a subject with iso-21q abortion. Basic Life Sci 1974;4(A):317-39. trisomy 21 from a 15q21q balanced translocation, 9 Murken JD, Bauchinger M, Palitzscl D, Pfeifer H, Suschke and by Fryns et al'6 to explain a case of trisomy 13 J, Haendle H. Trisomy D2 bei einen 2 1/2 jahrigen mosaicism from a de novo 13q13q translocation. Madchen (47,XX,14-+-). Humangenetik 1970;10:254-68. 10 Hill FS, Summitt RL. Delineation of Robertsonian trans- Atkins and Bartsocas17 also possibly observed such location in man by means of chromosome banding. Eur an event, although the trisomic cell line in their case JPediatr 1977; 126:203-9. was the major line. It thus seems that dissociation of 1 Angell R, Gianelli R, Polani PE. Three dicentric Y some centric fusion translocations may be expected chromosomes. Ann Hum Genet 1970 ;34 :39-50. 12 Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A to give rise to chromosomally unbalanced subjects in cytogenetic survey of 11,680 newborn infants. Ann Hum a small number of instances. Genet 1974;37:359-76. The reason for this occasional appearance of an 13 Niebuhr E. Dicentric and monocentric Robertsonian unstable dicentric is of obvious interest. Daniel and translocation in man. Humangenetik 1972;16:217-26. 14 Lau YF, Hsu TC. Variable modes of Robertsonian Lam-Po-Tang18 and Hsu et al19 have reviewed fusions. Cytogenet Cell Genet 1977;19:231-5. Robertsonian translocations in man and concluded 11 Vianna-Morgante A, Nunesmaia H. Dissociation as that most, if not all, of these are actually dicentric probable origin of mosaic 45,XY,t(15 ;21)/46,XY,i(21q). and, as with dicentrics in general, the reason for J Med Genet 1978 ;15 :305-10. 16 Fryns JP, Caesar P, Van den Berghe H. Mosaic 13 their stability is the suppression of the activity of one trisomy due to de novo 13/13 translocation with sub- of the two centromeres. It is also possible that this sequent fission. Karyotype: 46,XX,-13, +t(13 ;13)(pl 1; stability is not absolute and that, if carefully searched qI l)/46,XX,del(13)(qll). Hum Genet 1979;46:237-41. for, a small percentage of cells in many Robertsonian 17 Atkins L, Bartsocas C. Down's syndrome associated with two Robertsonian translocations, 45,XX,-15-21, +t translocation heterozygotes will show evidence of (I 5q21q) and 46,XX,-2 1, + t(21 q21 q). J Med Genet 1974; dissociation. These dissociated chromosomes, which 11:306-9. may appear as two acrocentrics in satellite associa- 18 Daniel A, Lam-Po-Tang PRLC. Structure and inheritance tion, may still be connected by interchromosomal of some heterozygous Robertsonian translocations in man. J Med Genet 1976;13:381-8. strands.20 19 Hsu TC, Pathak S, Chen T. The possibility of latent centromeres and a proposed nomenclature system for We thank Ruth Klefsas, Glenna Swanda, and total chromosome and whole arm translocations. Cyto- Donalee Casseday for assistance. genet Cell Genet 1975;15:41-9. http://jmg.bmj.com/ 20 Bahr GF. Chromosomes and chromatin structure. In: Yunis J, ed. Molecular structure of human chromosomes. MALCOLM B JENKINS*, ROBERT KRIELt, AND New York: Academic Press, 1977:143-203. LLOYD BOYD* *Human Genetics Unit, Minnesota Requests for reprints to Dr M B Jenkins, Human Department of Health, 717 SE Delaware Genetics Unit, Minnesota Department of Health, Street, Minneapolis, Minnesota 55440; and 717 SE Delaware Street, Minneapolis, Minnesota tDepartment ofPediatrics, St Paul-Ramsey 55440, USA. on October 2, 2021 by guest. Protected copyright. Hospital, 640 Jackson Street, St Paul, Minnesota 55101, USA Monosomy 22 with mosaicism References SUMMARY A 2-year-old male child with mosai- Rethore MO, Couturier J, Carpentier S, Ferrand J, Lejeune J. Trisomie 14 en mosaique chez une infant cism for monosomy of chromosome 22 is multimalformee. Ann Hum Genet 1975;18:71-4. described. He had moderate psychomotor 2 Martin AD, Ford M, Khalil N, Turk K, Maclntyre M. retardation, generalised hypotonia, large ears, 46,XX/47,XX, + 14 mosaicism in a liveborn infant. J Med Genet 1977 ;14:214-8. epicanthus, synophrys, and cutaneous syndactyly Johnson VP, Aceto T, Likness C. Trisomy 14 mosaicism: between all the fingers. case report and review. AmzJ Med Genet 1979,;3:331-9. Miller JQ, Wilson K, Wyandt H, Jaramillo MA, Before the availability of chromosome banding McConnell T. Familial partial 14 trisomy. J Med Genet 1979 ;16 :60-5. techniques, attempts to delineate syndromes resulting Lopez Pajares 1, Delicado A, Cobas PV, Lledo B, from monosomy of G group chromosomes were Peralta A. Partial trisomy 14q. Humn Genet 1979;46:243-6. Received for publication 25 April 1980 J Med Genet: first published as 10.1136/jmg.18.1.71 on 1 February 1981. Downloaded from 72 Case reports _ s_ .... father. The two older sisters of the index patient were - _E normal, but both of his elder brothers had died in * tF: 4 ^)...... i infancy from unknown causes. There was no con- ... ... sanguinity. His early motor and mental milestones were greatly delayed: he smiled at 9 months, held his head up at ..§io. ^ * : ;{S'9.4 I :''.:3. 1 year, and rolled over at 1l years. *.t On examination, he was 65 cm in length, weighed :.g ii 5 kg, and had an occipitofrontal circumference of .: 35 cm, all below the 3rd centile. He had flat facies, narrow hairy forehead with synophrys, mild epicanthus, upward slanting palpebral fissures, promi- nent nasal bridge, thin lips with a marked overbite, -e naf '@ .:: ::a o *r.'r FIG 1 General appearance ofthe patient. by the inability to distinguish between complicated 4 :,.N1. X& "" chromosomes 21 and 22.1 2 With the advent of :% -p qz banding techniques, chromosome 21 could easily be t e. i differentiated from chromosome 22.3 Only one t patient with monosomy for chromosome 22 has been reported so far.4 Ours is the first case of mosaic- ism for monosomy 22. Case report The proband, a 2-year-old male child, was born at term after an uncomplicated pregnancy and normal http://jmg.bmj.com/ delivery to a 30-year-old mother and 33-year-old i,. I 2..... I I ; /I..s. on October 2, 2021 by guest. Protected copyright. 2 3 S 5 .ix.. t 8 L'ItAL 44 6 7 8 9 10 11 12 *-Us I A.' 13 14 15 16 17 1l ,. 19 20 21 22 x FIG 2 (a) Partial karyotype showing monosomy 22; (b) a metaphase. J Med Genet: first published as 10.1136/jmg.18.1.71 on 1 February 1981. Downloaded from Case reports 73 and large, low set ears with a well formed helix. The References lenses and fundi were normal. Systemic examination Al-Aish MS, De La Cruz F, Goldsmith LA, Volpe J, showed marked failure to mental Mella G, Robinson JC. Autosomal monosomy in man. thrive, hypotonia, N Engl J Med 1967;277:777-84. retardation, unilateral undescended testis, and small 2 Dhadial RK. Monosomy for G-autosome. Arc/h Dis penis (fig 1). Both arms were normal in length. There Child 1969;44:113. was loose skin over the dorsal aspect of the meta- 3 Warren RJ, Rimoin DL, Summitt RL. Identification by carpophalangeal joints and an increase in fine palmar fluorescent microscopy of abnormal chromosomes, associated with G deletion syndrome. Am J Hum Genet creases. 1973;25:77-81. Dermatoglyphic examination showed bilateral 4 DeCicco F, Steele MW, Pan S, Parck SC. Monosomy of simian creases, two arches, one radial loop, and two chromosome No 22. A case report. J Pediatr 1973;830: ulnar loops on each hand. His palms appeared to be 836-8. 5 Hunter AGW, Ray M, Wang HS, Thompson DR. longer than usual because of syndactyly of the skin Phenotypic correlations in patients with ring chromosome between all fingers. All joints were hyperextensible. 22. Clin Gentet 1977;12:239-49. His mental age was around 9 months. Requests for reprints to Professor L M Ambani, LABORATORY STUDIES Unit of Medical Genetics, Institute for Research in Routine haematological, biochemical, and urinary Reproduction, Jehangir Merwanji Street, Parel, studies were normal. His bone age was within nor- Bombay 400 012, India. mal limits. Fifty metaphases, obtained by standard leucocyte culture techniques and stained with Giemsa, were analysed. Twelve of the metaphases had 45 chromo- Variable expression in Pfeiffer somes. Each of these cells lacked one chromosome syndrome 22: 45,XY, -22 (fig 2). In 38 other metaphases the chromosomal complement showed a normal 46,XY pattem. The chromosomal pattern of the mother SUMMARY A female infant with Pfeiffer syn- was normal. drome (acrocephalosyndactyly V) is presented. Her mother has no limb malformations, but Discussion has craniofacial features which strongly suggest that she is also affected, although more mildly. Despite the fact that banding techniques have been This family indicates that wide intrafamilial in use for almost a decade now, only one case of variation of Pfeiffer syndrome is possible and http://jmg.bmj.com/ monosomy 22 without mosaicism has been de- suggests that without detailed investigation scribed.4 Our patient is the first case of mosaicism mildly affected subjects can remain undiagnosed, for monosomy 22, the majority of cells (38 of 50; which may lead to erroneous genetic counselling.
Load more

Recommended publications
  • Cellular and Synaptic Network Defects in Autism
    Cellular and synaptic network defects in autism The MIT Faculty has made this article openly available. Please share how this access benefits you. Your story matters. Citation Peca, Joao, and Guoping Feng. “Cellular and Synaptic Network Defects in Autism.” Current Opinion in Neurobiology 22, no. 5 (October 2012): 866–872. As Published http://dx.doi.org/10.1016/j.conb.2012.02.015 Publisher Elsevier Version Author's final manuscript Citable link http://hdl.handle.net/1721.1/102179 Terms of Use Creative Commons Attribution-Noncommercial-NoDerivatives Detailed Terms http://creativecommons.org/licenses/by-nc-nd/4.0/ NIH Public Access Author Manuscript Curr Opin Neurobiol. Author manuscript; available in PMC 2013 October 01. Published in final edited form as: Curr Opin Neurobiol. 2012 October ; 22(5): 866–872. doi:10.1016/j.conb.2012.02.015. Cellular and synaptic network defects in autism João Peça1 and Guoping Feng1,2 $watermark-text1McGovern $watermark-text Institute $watermark-text for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA 2Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA Abstract Many candidate genes are now thought to confer susceptibility to autism spectrum disorder (ASD). Here we review four interrelated complexes, each composed of multiple families of genes that functionally coalesce on common cellular pathways. We illustrate a common thread in the organization of glutamatergic synapses and suggest a link between genes involved in Tuberous Sclerosis Complex, Fragile X syndrome, Angelman syndrome and several synaptic ASD candidate genes. When viewed in this context, progress in deciphering the molecular architecture of cellular protein-protein interactions together with the unraveling of synaptic dysfunction in neural networks may prove pivotal to advancing our understanding of ASDs.
    [Show full text]
  • 22Q13.3 Deletion Syndrome
    22q13.3 deletion syndrome Description 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures or lose skills they had already acquired (developmental regression). Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth.
    [Show full text]
  • The Role of Molecular Testing in the Diagnosis of Cutaneous Soft Tissue Tumors Alison L
    The Role of Molecular Testing in the Diagnosis of Cutaneous Soft Tissue Tumors Alison L. Cheah, MBBS, and Steven D. Billings, MD A number of soft tissue tumors are characterized by recurring genetic abnormalities. The identification of these abnormalities has advanced our understanding of the biology of these tumors and has led to the development of molecular tests that are helpful diagnos- tically. This review will focus on the application of molecular diagnostic testing in select mesenchymal tumors of the dermis and subcutis. Semin Cutan Med Surg 31:221-233 © 2012 Frontline Medical Communications KEYWORDS dermatofibrosarcoma protuberans, angiomatoid fibrous histiocytoma, clear cell sarcoma, low-grade fibromyxoid sarcoma, epithelioid hemangioendothelioma, postradia- tion angiosarcoma, Ewing sarcoma, FISH, cytogenetics here have been great advances in recent years in the neck. The typical presentation is of a nodule with slow but Tgenetic characterization of cutaneous mesenchymal tu- persistent growth, often over several years. DFSP has a pro- mors. A growing number of mesenchymal neoplasms are pensity for local recurrence, but only rarely metastasizes. being defined by recurring genetic events that make up a Management requires adequate margin control either by so-called genetic signature, most often in the form of chro- wide-local excision or Mohs surgery, the choice of which mosomal translocations that result in specific oncogenic fu- depends on individual tumor and patient characteristics as sion genes. Knowledge and identification of these recurrent well as institutional experience.1,2 molecular aberrations allow for more accurate diagnosis of Histologically, DFSP is characterized by a tight storiform mesenchymal tumors and are advancing our understanding or cartwheel growth pattern of uniform and relatively bland of their underlying biology.
    [Show full text]
  • Compound Phenotype in a Girl with R(22), Concomitant Microdeletion 22Q13.32- Q13.33 and Mosaic Monosomy 22 Anna A
    Kashevarova et al. Molecular Cytogenetics (2018) 11:26 https://doi.org/10.1186/s13039-018-0375-3 RESEARCH Open Access Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32- q13.33 and mosaic monosomy 22 Anna A. Kashevarova1* , Elena O. Belyaeva1, Aleksandr M. Nikonov2, Olga V. Plotnikova2, Nikolay A. Skryabin1, Tatyana V. Nikitina1, Stanislav A. Vasilyev1, Yulia S. Yakovleva1,3, Nadezda P. Babushkina1, Ekaterina N. Tolmacheva1, Mariya E. Lopatkina1, Renata R. Savchenko1, Lyudmila P. Nazarenko1,3 and Igor N. Lebedev1,3 Abstract Background: Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation. Results: Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13.31 deletion syndrome. All chromosomal aberrations were confirmed by real-time PCR in lymphocytes and detected in skin fibroblasts. The deletions were also found in the buccal epithelium. According to FISH analysis, 8% and 24% of the patient’s lymphocytes and skin fibroblasts, respectively, had monosomy 22. Conclusions: We believe that a combination of 22q13.32-q13.33 deletion and monosomy 22 in a portion of cells can better define the clinical phenotype of the patient. Importantly, the in vivo presence of monosomic cells indicates ring chromosome instability, which may favor karyotype correction that is significant for the development of chromosomal therapy protocols.
    [Show full text]
  • Chromothripsis and Ring Chromosome 22: a Paradigm of Genomic
    JMG Online First, published on January 29, 2018 as 10.1136/jmedgenet-2017-105125 Genome-wide studies J Med Genet: first published as 10.1136/jmedgenet-2017-105125 on 29 January 2018. Downloaded from ORIGINAL ARTICLE Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) Nehir Kurtas,1 Filippo Arrigoni,2 Edoardo Errichiello,1 Claudio Zucca,3 Cristina Maghini,4 Maria Grazia D’Angelo,4 Silvana Beri,5 Roberto Giorda,5 Sara Bertuzzo,6 Massimo Delledonne,7 Luciano Xumerle,7 Marzia Rossato,7 Orsetta Zuffardi,1 Maria Clara Bonaglia6 ► Additional material is ABSTRact structural component of the glutamatergic post- published online only. To view Introduction Phelan-McDermid syndrome (PMS) synaptic density.6 Patients with PMS mainly exhibit please visit the journal online (http:// dx. doi. org/ 10. 1136/ is caused by SHANK3 haploinsufficiency. Its wide neurological and behavioural symptoms including jmedgenet- 2017- 105125). phenotypic variation is attributed partly to the type and hypotonia, intellectual disability (ID), impaired size of 22q13 genomic lesion (deletion, unbalanced language development (delayed or absent speech), 1 Department of Molecular translocation, ring chromosome), partly to additional behavioural features consistent with disorders of Medicine, University of Pavia, undefined factors. We investigated a child with severe the autistic spectrum and seizures. Pavia, Italy 2Neuroimaging Laboratory, global neurodevelopmental delay (NDD) compatible The penetrance and expressivity of these symp- Scientific Institute, IRCCS with her distal 22q13 deletion, complicated by bilateral toms may be variable, with different degrees of Eugenio Medea, Bosisio Parini, perisylvian polymicrogyria (BPP) and urticarial rashes, severity at different ages3 7–9 as well as congenital Italy 4 5 3 unreported in PMS.
    [Show full text]
  • Duplications in Addition to Terminal Deletions Are Present in a Proportion of Ring Chromosomes: Clues to the Mechanisms of Formation
    Original article J Med Genet: first published as 10.1136/jmg.2007.054007 on 15 November 2007. Downloaded from Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation E Rossi,1* M Riegel,2* J Messa,1 S Gimelli,1 P Maraschio,1 R Ciccone,1 M Stroppi,3 P Riva,3 C S Perrotta,4 T Mattina,4 L Memo,5 A Baumer,2 V Kucinskas,6 C Castellan,7 A Schinzel,2 O Zuffardi1,8 1 Biologia Generale e Genetica ABSTRACT ‘‘ring syndrome’’1 that in cases with intact ring Medica, Universita`di Pavia, 2 Background and methods: Ring chromosomes are chromosomes is characterised, independently of Pavia, Italy; Institut fuer often associated with abnormal phenotypes because of Medizinische Genetik der the chromosome involved, by severe growth fail- Universitaet Zuerich, loss of genomic material at one or both ends. In some ure, minor dysmorphic features, and mild to Schwerzenbach, Switzerland; cases no deletion has been detected and the abnormal moderate mental retardation, without major mal- 3 Dipartimento di Biologia e phenotype has been attributed to mitotic ring instability. formations. In a review of 207 cases, Kosztola´nyi2 Genetica, Universita`di Milano, We investigated 33 different ring chromosomes in Milano, Italy; 4 Divisione di estimated that one fifth of subjects with auto- Genetica Medica, Universita`di patients with phenotypic abnormalities by array based somal rings are affected by the ‘‘ring syndrome’’ Catania, Catania, Italy; 5 UO comparative genomic hybridisation (CGH) and fluores- phenotype. Indeed, more recent papers have Patologia Neonatale, Ospedale cence in situ hybridisation (FISH).
    [Show full text]
  • Supplement 1
    Increased recurrence risk in Phelan-McDermid (22q13.3 deletion) syndrome: the importance of FISH demonstrated by a case series of five families R.J. Zwanenburg, T. Dijkhuizen, M.J. de Groot, S. Nampoothiri, M.H. Willemsen, E. Dulfer, M.V. Thampi, N. de Leeuw, * C.M.A. van Ravenswaaij-Arts * Corresponding author: [email protected] University of Groningen, University Medical Centre Groningen, Department of Genetics, the Netherlands Supplement 1. Clinical description and molecular and cytogenetic results of the families Family 1 This family consists of two siblings with a 2.61Mb deletion of 22q13.32q13.33 (Figure S1) and a 14.06 Mb duplication of 13q32.3q34 due to a paternal translocation t(13;22)(q32.3;q13.32) (Figure S2) and two healthy, non-consanguineous parents. The eldest sibling, a boy, was born at a gestational age of 38 weeks, with a birth weight of 2400 g. The neonatal period was uncomplicated, but he later showed global developmental delay. He stood unsupported at the age of two years and walked independently at the age of three years. At the age of three years and nine months, he was still non-verbal but able to understand commands. He had the habit of chewing on non-edible substances. At physical examination, he had a supranasal iris defect of the right eye, a coarse face, anteverted nares, bushy eyebrows, hypertelorism and brachydactyly. A cerebral MRI showed paucity of the white matter in both cerebral hemispheres, with mild prominence of the ventricles and mild thinning of the corpus callosum.
    [Show full text]
  • Chromosome 22
    Chromosome 22 Description Humans normally have 46 chromosomes (23 pairs) in each cell. Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs. Chromosome 22 is the second smallest human chromosome, spanning more than 51 million DNA building blocks (base pairs) and representing between 1.5 and 2 percent of the total DNA in cells. In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 22 likely contains 500 to 600 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. Health Conditions Related to Chromosomal Changes The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 22. 22q11.2 deletion syndrome 22q11.2 deletion syndrome is a disorder involving heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, low calcium levels, and an increased risk of behavioral problems and mental illness such as schizophrenia. Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated as q11.2. This region contains 30 to 40 genes, but many of these genes have not been well characterized.
    [Show full text]
  • 22Q13.3 Deletion Syndrome: a Recognizable Malformation Syndrome Associated with Marked Speech and Language Delay
    American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 145C:393–398 (2007) ARTICLE 22q13.3 Deletion Syndrome: A Recognizable Malformation Syndrome Associated With Marked Speech and Language Delay KRISTINA CUSMANO-OZOG,* MELANIE A. MANNING, AND H. EUGENE HOYME The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic facies. The prevalence of this disorder is unknown, but it is likely under-diagnosed. Age at diagnosis has varied widely, from cases diagnosed prenatally to 46 years. Males and females are equally affected. The distal 22q deletion can be detected occasionally by routine or high resolution chromosome analysis; however, the majority of cases are detected by FISH analysis, associated with deletion of the ARSA (control) probe when performing a FISH analysis for the velocardiofacial syndrome (del 22q11.2). The 22q13.3 deletion syndrome can accompany a simple chromosome deletion, an unbalanced translocation, or a ring chromosome. Primary care physicians, in addition to numerous specialists, play an important role in caring for patients with this disorder. Although the dysmorphic features observed in this condition are nonspecific, it is an important consideration in the differential diagnosis of children with developmental delay, hypotonia, marked speech and language disability, autistic-like features, multiple minor anomalies, and normal growth and head circumference. ß 2007 Wiley-Liss, Inc. KEY WORDS: deletion 22q13.3; terminal 22q deletion syndrome; chromosome anomaly; dysmorphology; autism; speech and language delay; developmental disabilities How to cite this article: Cusmano-Ozog K, Manning MA, Hoyme HE.
    [Show full text]
  • Deletion Breakpoints of the CATCH22 Syndrome
    University of Alberta Cat eye chromosome duplication breakpoints associated with the human cat eye syndrome cluster in two regions that correspond to deletion breakpoints of the CATCH22 syndrome Kerry Ellen MTaggatt 0 A thesis submitted to the Faculty of Graduate Studies and Research in partid fdfilhnent of the requirements for the degree of Master of Science Molecular Biology and Genetics Department of Biological Sciences Edmonton, Alberta Fd, 1997 National Library Bibliothèque nationale of Canada du Canada Acquisitions and Acquisitions et Bibliographie Services services bibliographiques 395 Wellington Street 395. rue Wellington Ottawa ON K1A ON4 Oitawa ON K1A ON4 Canada Canada Ywr iUe Votre nifëfence Our rYe None nltéfenca The author has granted a non- L'auteur a accordé une licence non exclusive licence allowing the exclusive permettant à la National Library of Canada to Bibliothèque nationale du Canada de reproduce, loan, distribute or seIl reproduire, prêter, distribuer ou copies of this thesis in microfom, vendre des copies de cette thèse sous paper or electronic formats. la fome de microfiche/film, de reproduction sur papier ou sur format électronique. The author retains ownership of the L'auteur conserve la propriété du copyright in this thesis. Neither the droit d'auteur qui protège cette thèse. thesis nor substantial extracts f?om it Ni la these ni des extraits substantiels may be printed or otherwise de celle-ci ne doivent être imprimés reproduced without the author's ou autrement reproduits sans son permission. autorisation. Abstract CES is a rare, phenotypically variable human disorder resulting from a duplication of 22pter-22q11.2, typically in the form of a L supernumerary dicentric bisatellited cat eye chromosome, or CEC.
    [Show full text]
  • A Systematic Analysis of Small Supernumerary Marker Chromosomes Using Array CGH Exposes Unexpected Complexity
    ©American College of Medical Genetics and Genomics SYSTEMATIC REVIEW A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity Kavita S. Reddy, PhD1, Swaroop Aradhya, PhD2, Jeanne Meck, PhD2, George Tiller, MD1, Sridevi Abboy, MD1 and Harold Bass, MD1 Purpose: A small supernumerary marker chromosome is often seen showed unexpected complexity. Two cases had markers that were in patients with developmental disorders. Prior to array-based com- derivative acrocentric (AgNOR+) chromosomes with the euchroma- parative genomic hybridization markers were rarely genotyped end tin from chromosomes 18p or 19p. Each of the other three cases with to end. In this study, a valid genotype-to-phenotype correlation was complex markers had unusual characteristics including a marker possible because the supernumerary marker chromosomes were fully from noncontiguous segments of chromosome 19q, a highly complex characterized by array-based comparative genomic hybridization in a rearrangement involving a chromosome 20 homolog as well as the genome-wide analysis. small supernumerary marker chromosome, and a mosaic duplication of a proximal 8p marker. Methods: Ten consecutive de novo small supernumerary marker chromosome cases were systematically genotyped using G-banding, Conclusion: Small supernumerary marker chromosomes are fre- C-banding, AgNOR staining, whole-genome array-based compara- quently complex on the basis of our small sample. Whole-genome tive genomic hybridization, and fluorescence in situ hybridization. array-based comparative genomic hybridization characterization of the small supernumerary marker chromosome provided informed Results: Among 10 small supernumerary marker chromosome genetic counseling. cases studied, 4 (40%) were not identified by array-based comparative genomic hybridization because of low-level mosaicism or because Genet Med 2013:15(1):3–13 they lacked euchromatin.
    [Show full text]
  • Formation Chromosomes: Clues to the Mechanisms of Are Present in A
    Downloaded from jmg.bmj.com on September 23, 2010 - Published by group.bmj.com Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation E Rossi, M Riegel, J Messa, et al. J Med Genet 2008 45: 147-154 originally published online November 15, 2007 doi: 10.1136/jmg.2007.054007 Updated information and services can be found at: http://jmg.bmj.com/content/45/3/147.full.html These include: References This article cites 40 articles, 7 of which can be accessed free at: http://jmg.bmj.com/content/45/3/147.full.html#ref-list-1 Article cited in: http://jmg.bmj.com/content/45/3/147.full.html#related-urls Open Access Email alerting Receive free email alerts when new articles cite this article. Sign up in the service box at the top right corner of the online article. Topic collections Articles on similar topics can be found in the following collections Unlocked (471 articles) Genetic screening / counselling (2109 articles) Notes To order reprints of this article go to: http://jmg.bmj.com/cgi/reprintform To subscribe to Journal of Medical Genetics go to: http://jmg.bmj.com/subscriptions Downloaded from jmg.bmj.com on September 23, 2010 - Published by group.bmj.com Original article Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation E Rossi,1* M Riegel,2* J Messa,1 S Gimelli,1 P Maraschio,1 R Ciccone,1 M Stroppi,3 P Riva,3 C S Perrotta,4 T Mattina,4 L Memo,5 A Baumer,2 V Kucinskas,6 C Castellan,7 A Schinzel,2 O Zuffardi1,8 1 Biologia Generale e Genetica ABSTRACT ‘‘ring syndrome’’1 that in cases with intact ring Medica, Universita`di Pavia, 2 Background and methods: Ring chromosomes are chromosomes is characterised, independently of Pavia, Italy; Institut fuer often associated with abnormal phenotypes because of Medizinische Genetik der the chromosome involved, by severe growth fail- Universitaet Zuerich, loss of genomic material at one or both ends.
    [Show full text]