DOCSLIB.ORG

D13 Ring Chromosome Syndrome ANNE Mccandless and S

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
D13 Ring Chromosome Syndrome ANNE Mccandless and S Arch Dis Child: first published as 10.1136/adc.51.6.449 on 1 June 1976. Downloaded from Archives of Disease in Childhood, 1976, 51, 449. D13 ring chromosome syndrome ANNE McCANDLESS and S. WALKER From the Department of Child Health, Alder Hey Hospital, Liverpool, and Cytogenetics Unit, University of Liverpool McCandless, A., and Walker, S. (1976). Archives of Disease in Childhood, 51,449. D13 ring chromosome syndrome. A case ofring D13 chromosome, con- firmed by trypsin banding, is described. Reviewing 21 cases from published reports, the most common features of this syndrome are microcephaly and associated mental retardation, poor uterine growth, deformed auricles, hypertelorism, epicanthus, broad nasal bridge, and genital defects in males. Many reports of D ring chromosomes have been assessment was done at 2 25 years, developmental made, of which 21 cases are confirmed as ring D13. quotient 14, equal to a child of less than 6 months. 16 of these were recognized by radioautography At the age of 3 years the circumference of the head only, the other 5 by chromosome banding tech- was 44 cm. The upper incisors protrude but there is no niques which allow accurate identification (see overcrowding of the teeth. There is no evidence of Table). We report a further case identified as Di3r by chromosome banding and summarize copyright. briefly the clinical findings in these cases. Case report A male was bom on 26 May 1972. Mother was 23 years and the father 25 years old. Delivery was normal at 34 weeks' gestation, birthweight 1550 g, length 40 6 cm, and head circumference 27-9 cmn. The facial .. W....~ http://adc.bmj.com/ appearance was abnormal, the frontal region of the skull was narrow; hypertelorism and almond shaped eyes were present (Fig. 1). A slight epicanthic fold was present on the right. The auricles were large and low set. A. broad nasal bridge, micrognathia, and a highly arched palate were apparent. In both hands the thumbs were low lying and there was a contracture of the right thumb. The feet were small and the second and fourth toes overlapped on each foot; bilateral clinodactyly was pre- on September 26, 2021 by guest. Protected sent in the outer three toes. Examination confirmed the presence of microphthalmos and microcomea, and large_ choroidal colobomata were present in both eyes. The .. parents already had 2 normal children. After diagnosis by chromosome studies, the infant's condition was discussed with the parents and a guarded prognosis was given regarding subsequent mental development. The parents however were anxious to....... take the child home. At a later date it was discovered that the infant was being kept closed up in a cupboard .... in the kitchen; feeds were given erratically. He was taken into the care of the Social Services Department. Since then he has gained weight but his height and weight lie below the 3rd centile. A full developmental Received 6 October 1975. FIG. 1 Patient at age of 1 week. 449 Arch Dis Child: first published as 10.1136/adc.51.6.449 on 1 June 1976. Downloaded from 450 McCandless and Walker TABLE Cases of ring Case no. 1 2 3 I 4 5 6 7 8 9 0 0' c. _r 00~ ~ ~ 0' 0 X E %u 13r Identification (auto or G-bands) A A A |A A G A A Sex M M M M F M F M Age at investigation 20 m 21 m 15 yr 21 m 20 yr 9 yr 3 yr 1 w Birthweight (g) 1875 3850 12750 2300 1950 2000 Gestation (w) 40 42 42 40 Dysmature + Age of mother 21 20 27 21 26 25 Age of father 23 23 1l29 24 copyright. 33 Microcephaly and mental retardation + + + + + + + Arrhinencephaly + Microphthalmia L eye Epicanthus + + + http://adc.bmj.com/ Hypertelorism + Broad prominent nasal bridge Auricles-large or deformed + High-arched palate + _ Protruding upper incisors + Micrognathia + + on September 26, 2021 by guest. Protected Heart murmur Small penis Small or bifid scrotum + Undescended testes Absent on L Hypospadias + Imperforate anus + Hand or foot anomalies + Renal defects + Arch Dis Child: first published as 10.1136/adc.51.6.449 on 1 June 1976. Downloaded from D13 ring chromosome syndrome 451 ,hromosome 13 11 10 12 13 14 15 16 17 18 19 20 22 21 u u ~~~~-' ,- (4 - ~~~-1-1 0 u~~0%Cuu - 0 0 0 4) . - ) ,0% 0 A A A A A A A A G G G G G F M F F M M F M M M M F M 10 yr 20 m 6 m 3 yr 25 yr 6 m 6 m 15 yr 14 m 14 m 14 yr 4 yr 1w 1650 1960 2200 2300 2016 2044 2100 1800 2050 2425 1900 1550 40 38 38 38 40 40 40 39 40 40 34 18 21 28 19 25 24 30 25 35 23 copyright. 20 24 32 21 28 24 31 24 39 25 + + + + + + + + http://adc.bmj.com/ + + + + + + + + + + + on September 26, 2021 by guest. Protected + + + Arch Dis Child: first published as 10.1136/adc.51.6.449 on 1 June 1976. Downloaded from 452 McCandless and Walker congenital malformation of the heart, and the pyelogram has shown severe mental retardation. There are was normal. The testicles are very small but the penis also a number of other features which occur in is normal in size. The child is happy and smiles almost more than 60% of the cases and which can be re- continuously during the waking hours. garded as characteristic of the syndrome. These are poor uterine growth resulting in dysmaturity Cytogenetic studies. From peripheral bloc d cul- at birth, large low-set or malrotated auricles, tures in 1972 chromosome counts were made on 60 cells. hypertelorism, epicanthus, broad prominent nasal Of these, 57 contained 46 chromosomes and 3 contained bridge, and genital defects in males. The most 45 only. Those with 46 chromosomes showed the frequent genital defects were small or bifid scrotum presence of a ring chromosome apparently replacing a and undescended testes. Less common were a member of the D group. The ring chromosome was small penis and hypospadias. missing from cells with 2n=45. Culture of blood features from both parents indicated they had normal karyotypes. The next most common group of ap- Reinvestigation in 1975 permitted G-banding of the pearing in more than 30% of the cases are microg- chromosomes from the patient using a modification of nathia, high arched palate, protruding upper the trypsin method of Seabright (1971). This showed a incisors, foot or hand anomalies, and heart murmur. D13 ring chromosome in all cells with a count of 2n =46 In the 8 cases in which cardiac murmurs were (Fig. 2). found there were no consistent abnormalities. Case 9 (Biles, Liiers, and Sperling, 1970) had an atrial septal defect confirmed at necropsy and Case 13 (Hollowell et al., 1971) Fallot's tetralogy. Foot and hand anomalies were various. Over- lapping of the toes seen in the present case was evident also in Case 2 (Gerald et al., 1967), Case 4 (Lejune et al., 1968), Case 5 (Allerdice et al., 1969), and Case 21 (Fried et al., 1975). Other defects were absent thumbs and fifth toes in Case 18 (Niebuhr and Ottosen, 1973), absent or fused copyright. metacarpals with extra digits in Case 9 (Biles et al., 1970), plano valgus in Case 2 (Gerald et al., 1967), and arthrogryposis with multiple skeletal defects in Case 16 (Grace et al., 1971). The low lying thumbs and contracture seen in the present case FIG. 2.-Group D chromosomes of patient. Upper row have not been described previously. stained in lactic-acetic orecin; lower row after trypsin Several authors described the eyes of their cases http://adc.bmj.com/ banding and Leishman's stain. as oriental or 'almond-shaped'; this is well shown in our case (Fig. 1). Other than microphthalmia, defects of the eyes were rare, including squint or Serology. Blood groups ABO, CDE, MN, S, K, and Fy were investigated in the patient and his parents. colobomata of the irides. Only 3 infants had Only in the case of the MNS groups did the patient renal defects; Case 5 (Allerdice et al., 1969) and show heterozygosity, indicating that the MNS loci could Case 9 (Biles et al., 1970) had ptosis of the right not be carried on the deleted sections of D,3. The level kidney; Case 9 also had a hypoplastic left kidney; on September 26, 2021 by guest. Protected of haptoglobin in the patient was normal. Immuno- and Case 19 (Hoo, Obermann, and Cramer, 1974) globulins IgA, IgM, and IgG were investigated in the had agenesis of the right kidney. Anal atresia was child (age 6 months) and his parents. All were con- reported in 5 cases. sidered normal. As may be expected in an effective chromosome deletion syndrome there is wide variation in the Discussion phenotypic expression of the recorded ring D13 The most frequent anomalies associated with the cases, probably related to the amount of chromatin published ring D13 cases are recorded in the Table, lost. However, there are sufficient common fea- together with those found in the present case. tures as illustrated above to lead to a possible There is no association with maternal or paternal diagnosis. age. With one exception, maternal age, when given, was below 30 years. The only consistent We thank Dr. J. Bradley, Mr. W. T. A. Donohoe, and feature in all cases is microcephaly. Associated Mr. J. Ireland for the serology, and Miss G. A. Rowlands with this the intellectual assessment, when done, for technical assistance.
Load more

Recommended publications
  • Human Neural Tube Defects: Developmental Biology, Epidemiology, and Genetics
    Neurotoxicology and Teratology 27 (2005) 515–524 www.elsevier.com/locate/neutera Review article Human neural tube defects: Developmental biology, epidemiology, and genetics Eric R. Detraita, Timothy M. Georgeb, Heather C. Etcheversa, John R. Gilbertb, Michel Vekemansa, Marcy C. Speerb,* aHoˆpital Necker, Enfants Malades Unite´ INSERM U393, 149, rue de Se`vres, 75743 Paris Cedex 15, France bCenter for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, United States Received 16 December 2004; accepted 17 December 2004 Available online 5 March 2005 Abstract Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure. D 2004 Elsevier Inc. All rights reserved. Keywords: Neural tube defect; Genetics; Teratology Contents 1. Formation of the human neural tube .............................................. 516 2. Single site of neural fold fusion ................................................ 518 3. Relationship of human neural tube closure to mouse neural tube closure . ......................... 518 4. Clues from observational data ................................................. 518 5. Evidence for a genetic factor in human neural tube defects .................................. 519 6. If neural tube defects are genetic, how do they present in families? .............................. 519 7.
    [Show full text]
  • Mutations in ZIC2 in Human Holoprosencephaly: Description of a Novel ZIC2 Specific Phenotype and Comprehensive Analysis of 157 Individuals
    Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. Benjamin Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy Clegg, Mauricio Delgado, Kenneth Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lars-Erik Wehner, et al. To cite this version: Benjamin Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy Clegg, Mauricio Delgado, et al.. Mu- tations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.. Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. 10.1136/jmg.2009.073049. inserm-00439659 HAL Id: inserm-00439659 https://www.hal.inserm.fr/inserm-00439659 Submitted on 9 Dec 2009 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Mutations in ZIC2 in Human Holoprosencephaly: Comprehensive Analysis of 153 Individuals and Description of a Novel ZIC2-Specfic Phenotype Benjamin D. Solomon1#, Felicitas Lacbawan1,2#, Sandra Mercier3,4, Nancy J. Clegg5, Mauricio R. Delgado5, Kenneth Rosenbaum6, Christèle Dubourg3, Veronique David3, Ann Haskins Olney7, Lars-Erik Wehner8,9, Ute Hehr8,9, Sherri Bale10, Aimee Paulussen11, Hubert J. Smeets11, Emily Hardisty12, Anna Tylki-Szymanska13, Ewa Pronicka13, Michelle Clemens14, Elizabeth McPherson15, Raoul C.M.
    [Show full text]
  • Genotype-Phenotype Correlations in Patients with Retinoblastoma And
    Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein-Hitpaß, Deniz Kanber, Dietmar R Lohmann, Katrin Ounap, Marc Kaulisch To cite this version: Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein-Hitpaß, Deniz Kanber, et al.. Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion. European Journal of Human Genetics, Nature Publishing Group, 2011, 10.1038/ejhg.2011.58. hal- 00633984 HAL Id: hal-00633984 https://hal.archives-ouvertes.fr/hal-00633984 Submitted on 20 Oct 2011 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. 1 Genotype-phenotype correlations in patients with Retinoblastoma and interstitial 13q deletions 1, *Diana Mitter, 2Reinhard Ullmann, 2Artur Muradyan, 3Ludger Klein-Hitpaß, 1Deniz Kanber, 4Katrin Õunap, 5Marc Kaulisch, 1Dietmar Lohmann 1Institut für Humangenetik, Universitätsklinikum Essen, Germany; 2Max-Planck- Institute of Molecular Genetic, Berlin, Germany; 3Institute for Cell Biology (Tumor Research), University of Duisburg-Essen, Germany; 4Department of Genetics, United Laboratories, Tartu University Hospital, Estonia; 5Institute for Research Information and Quality Assurance, Germany. *Correspondence and present address: Diana Mitter, Institut für Humangenetik, Universitätsklinikum Leipzig, Philipp-Rosenthal-Str.
    [Show full text]
  • 13Q- Syndrome 4 14 Kg and at Necropsy a Normal Physical Appear- Ance Was Noted
    Arch Dis Child: first published as 10.1136/adc.52.12.972 on 1 December 1977. Downloaded from 972 Short reports References Case report Allen, M., Diamond, L. K., and Howell, D. A. (1960). Anaphylactoid purpura in children (Schonlein-Henoch A girl weighing 1 96 kg was born 3 weeks after term syndrome); review with a follow-up of the renal complica- tions. American Journal of Diseases of Children, 99, in the 37-year-old mother's tenth pregnancy. Apart 833-854. from unstable lie resulting in breech delivery, Cream, J. J., Gumpell, J. M., and Peachey, R. D. G. (1970). pregnancy was normal. Clinical examination con- Schonlein-Henoch purpura in the adult; a study of 77 firmed that the child was mature and therefore adults with anaphylactoid or Schonlein-Henoch purpura. Quarterly Journal of Medicine, 39, 461-484. small-for-dates. The head circumference was 31 cm Fitzsimmons, J. S. (1968). Uncommon complication of and the length 40 cm. The following features were anaphylactoid purpura. British MedicalJournal, 4,431-432. noted soon after birth: a triangular-shaped skull Gairdner, D. (1948). The Schonlein-Henoch syndrome (ana- with frontal bossing, low-set ears, broad nasal phylactoid purpura). Quarterly Journal of Medicine, 17, 95-122. bridge, bilateral ptosis, and choroidal colobomata. Imai, T., and Matsumoto, S. (1970). Anaphylactoid purpura The neck was short with markedly redundant skin with cardiac involvement. Archives of Disease in Childhood, folds. The labia minora were rudimentary. The 45, 727-729. thumbs were small and both they and the fifth Jacome, A. F. (1967). Pulmonary hemorrhage and death complicating anaphylactoid purpura.
    [Show full text]
  • 13Q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay
    G C A T T A C G G C A T genes Article 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay Flavia Privitera 1,2, Arianna Calonaci 3, Gabriella Doddato 1,2, Filomena Tiziana Papa 1,2, Margherita Baldassarri 1,2 , Anna Maria Pinto 4, Francesca Mari 1,2,4, Ilaria Longo 4, Mauro Caini 3, Daniela Galimberti 3, Theodora Hadjistilianou 5, Sonia De Francesco 5, Alessandra Renieri 1,2,4 and Francesca Ariani 1,2,4,* 1 Medical Genetics, University of Siena, 53100 Siena, Italy; fl[email protected] (F.P.); [email protected] (G.D.); fi[email protected] (F.T.P.); [email protected] (M.B.); [email protected] (F.M.); [email protected] (A.R.) 2 Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy 3 Unit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, Policlinico ‘Santa Maria alle Scotte’, 53100 Siena, Italy; [email protected] (A.C.); [email protected] (M.C.); [email protected] (D.G.) 4 Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy; [email protected] (A.M.P.); [email protected] (I.L.) 5 Unit of Ophthalmology and Retinoblastoma Referral Center, Department of Surgery, University of Siena, Policlinico ‘Santa Maria alle Scotte’, 53100 Siena, Italy; [email protected] (T.H.); [email protected] (S.D.F.) * Correspondence: [email protected]; Tel.: +39-057-723-3303 Citation: Privitera, F.; Calonaci, A.; Abstract: Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation Doddato, G.; Papa, F.T.; Baldassarri, of the RB1 gene (13q14).
    [Show full text]
  • Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans
    Hindawi Scientifica Volume 2017, Article ID 5364827, 29 pages https://doi.org/10.1155/2017/5364827 Review Article Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans Siti W. Mohd-Zin,1 Ahmed I. Marwan,2 Mohamad K. Abou Chaar,3 Azlina Ahmad-Annuar,4 and Noraishah M. Abdul-Aziz1 1 Department of Parasitology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia 2Laboratory for Fetal and Regenerative Biology, Colorado Fetal Care Center, Division of Pediatric Surgery, Children’s Hospital Colorado, University of Colorado, Anschutz Medical Campus, 12700 E 17th Ave, Aurora, CO 80045, USA 3Training and Technical Division, Islamic Hospital, Abdali, Amman 2414, Jordan 4Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia Correspondence should be addressed to Noraishah M. Abdul-Aziz; [email protected] Received 20 June 2016; Revised 14 November 2016; Accepted 1 December 2016; Published 13 February 2017 Academic Editor: Heinz Hofler Copyright © 2017 Siti W. Mohd-Zin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervoussystemmalformationcompatiblewithlifeandthesecondleadingcauseofbirthdefectsaftercongenitalheartdefects.Inthis review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition.
    [Show full text]
  • 13Q Deletion in a Girl Contributing to Antenatal Stroke, Insulin Resistance and Lymphedema Praecox: Expanding the Clinical Spectrum
    Elmer ress Case Report J Med Cases. 2015;6(6):264-267 13q Deletion in a Girl Contributing to Antenatal Stroke, Insulin Resistance and Lymphedema Praecox: Expanding the Clinical Spectrum Caroline Ponmania, c, Dinesh Girib, c, Khalid Hussaina, Senthil Senniappanb, d Abstract craniofacial dysmorphisms, hand and foot anomalies, brain, heart and kidney defects [1, 2]. A translocation or deletion in- The phenotypic description of 13q deletion syndrome is dependent volving the region 13q33.1-34 results in low concentrations on the location and size of the deleted segment. The syndrome is of coagulation factors [3]. Clinically this may or may not be divided into three groups based on the location of the deletion rela- associated with bleeding. Sub-clinical factor VII deficiency tive to chromosomal band 13q32. Groups 1 (proximal to q32) and 2 associated with a 46, XY, t(13;Y)(q11;q34) translocation and (including q32) have shown distinctive phenotypes including mental probable deletion of a terminal segment of 13q manifesting as retardation and growth deficiency, whereas group 3 (q33-34 dele- elevated prothrombin time (PTT) has been reported [4]. tion) is defined by the presence of mental retardation but usually We report an unusual presentation of 13q deletion. In our the absence of major malformations. 13q deletion has been associ- child factor VII assays showed a level of less than 3 IU/dL ated with factor VII and X deficiencies. We report a 10-year-old girl in utero resulting in intracranial hemorrhage. However fac- with cytogenetically detectable 13q33.3-34 deletion (group 3) and tor VII levels increased spontaneously without treatment and antenatally detected factor VII deficiency leading to stroke in utero although she continued to have an abnormal clotting profile and consequently hemiplegia at birth.
    [Show full text]
  • And Partial Monosomy 13Q (13Q33.3Qter) Associated with Dandy-Walker Malformation, Abnormal Skull Development and Microcephaly
    ■ SHORT COMMUNICATION ■ PRENATAL DIAGNOSIS AND MOLECULAR CYTOGENETIC CHARACTERIZATION OF DE NOVO PARTIAL TRISOMY 7P (7P15.3PTER) AND PARTIAL MONOSOMY 13Q (13Q33.3QTER) ASSOCIATED WITH DANDY-WALKER MALFORMATION, ABNORMAL SKULL DEVELOPMENT AND MICROCEPHALY Chih-Ping Chen1,2,3,4,5,6*, Ming Chen7,8,9,10, Yi-Ning Su11, Fuu-Jen Tsai4,12,13, Schu-Rern Chern2, Chin-Yuan Hsu1, Pei-Chen Wu1, Dai-Dyi Town1, Dong-Jay Lee7,8, Gwo-Chin Ma7, Wayseen Wang2,14 Departments of 1Obstetrics and Gynecology and 2Medical Research, Mackay Memorial Hospital, 5Institute of Clinical and Community Health Nursing, 6Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, 10Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, 11Department of Medical Genetics, National Taiwan University Hospital, and 14Department of Bioengineering, Tatung University, Taipei; 3Department of Biotechnology, Asia University, 4School of Chinese Medicine, College of Chinese Medicine, China Medical University, and Departments of 12Medical Research and 13Medical Genetics, China Medical University Hospital, Taichung; Departments of 7Genomic Medicine, 8Medical Research and 9Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan. SUMMARY Objective: To present the prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3pter) and partial monosomy 13q (13q33.3qter) associated with Dandy-Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital anomalies. Materials, Methods and Results: A 42-year-old woman, gravida 6, para 1, was referred for amniocentesis at 18 weeks of gestation because of her advanced maternal age. Amniocentesis revealed an aberrant derivative chro- mosome 13, or der(13). The parental karyotypes were normal. Spectral karyotyping showed that the der(13) was derived from a translocation of chromosomes 7 and 13.
    [Show full text]
  • The Rare 13Q33–Q34 Microdeletions: Eight New Patients and Review of the Literature
    Human Genetics (2019) 138:1145–1153 https://doi.org/10.1007/s00439-019-02048-y ORIGINAL INVESTIGATION The rare 13q33–q34 microdeletions: eight new patients and review of the literature Lena Sagi‑Dain1 · Yael Goldberg2 · Amir Peleg1 · Rivka Sukenik‑Halevy2,3,4 · Efrat Sofrin‑Drucker5 · Zvi Appelman6 · Ben Yehoshua Sagi Josefsberg7 · Shay Ben‑Shachar4,8 · Chana Vinkler9 · Lina Basel‑Salmon2,4 · Idit Maya2 Received: 16 April 2019 / Accepted: 12 July 2019 / Published online: 18 July 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019 Abstract The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33–q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. Local database search yielded eight new patients with 13q33.1–q34 microdeletions (three of which had additional copy number variants). Combined with 15 cases detected by literature search, an additional 23 cases were reported in DECIPHER database, and 17 cases from ClinVar, so overall 60 patients with isolated 13q33.1–q34 microdeletions were described. Developmental delay and/or intellectual disability were noted in the vast majority of afected individuals (81.7% = 49/60). Of the 23 deletions involving the 13q34 cytoband only, in 3 cases, developmental delay and/or intellectual disability was not reported. Interestingly, in two of these cases (66.7%), the deletions did not involve the terminal CHAMP1 gene, as opposed to 3/20 (15%) of patients with 13q34 deletions and neurocognitive disability. Facial dysmorphism and microcephaly were reported in about half of the overall cases, convulsions were noted in one-ffth of the patients, while heart anomalies, short stature and hypotonia each involved about 10–30% of the cases.
    [Show full text]
  • A SURVEY of GENETIC DISEASES in RWANDA Article
    Article A SURVEY OF GENETIC DISEASES IN RWANDA L. Mutesa1,*, A. Uwineza1, A.C. Hellin2, C. Mambo Muvunyi3, J.F. Vanbellinghen2, L. Umurerwa1, C. Muhorakeye1, J. B. Surwumwe1, M. Nyundo4, J. Gashegu4, E. Seruyange5, E. Rusingiza6, P. Mutwa6, L. Tuyisenge6, J.C. Kabayiza6, N. Muganga6, E. Saiba Semanyenzi7, C. Muhizi8, L. Kalisa9, A. Musemakweri10, L. Ngendahayo3, D. Mazina11, E. Bollaerts2, C. Verhaeghe2, G. Pierquin2, M. Jamar2, W. Wuyts12, H. Cuppens13, L. Vanmaldergem2, L. Koulischer2 and V. Bours2 1Center for Medical Genetics, Faculty of Medicine, National University of Rwanda, Butare, Rwanda; 2Center for Human Genetics, CHU Sart Tilman, University of Liège, Belgium; 3Department of Clinical Biology, Butare University Teaching Hospital, National University of Rwanda, Butare, Rwanda; 4Departments of Anatomy and Surgery, Butare University Teaching Hospital, National University of Rwanda, Butare, Rwanda; 5Department of Internal Medicine, Kigali University Teaching Hospital, Kigali, Rwanda; 6Departments of Pediatrics, Kigali University Teaching Hospital, National University of Rwanda, Kigali, Rwanda; 7Department of Ophthalmology, Kigali University Teaching Hospital, National University of Rwanda, Butare, Rwanda; 8Department of Ophthalmology, Butare University Teaching Hospital, National University of Rwanda, Butare, Rwanda; 9Department of Radiology, Kigali University Teaching Hospital, National University of Rwanda, Butare, Rwanda; 10Department of Internal Medicine, Butare University Teaching Hospital, National University of Rwanda, Butare, Rwanda; 11Department of Public Health, CHU, University of Liège, Belgium; 12Center for Medical Genetics, University of Antwerp, Antwerp, Belgium; 13Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium. ABSTRACT The Department of Medical Genetics at the Faculty of Medicine at National University of Rwanda opened in 2006. It is available to patients from our country and surrounding regions.
    [Show full text]
  • Factor VII Deficiency and Developmental Abnormalities in A
    BMC Medical Genetics BioMed Central Case report Open Access Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature Brian P Brooks*1,2,7, Jeanne M Meck3,4, Bassem R Haddad3,4, Claude Bendavid2,3,6, Delphine Blain1 and Jeffrey A Toretsky4,5 Address: 1National Eye Institute, USA, 2National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 3Department of Obstetrics/Gynecology and Oncology, USA, 4Lombardi Comprehensive Cancer Center, 5Pediatric Hematology/Oncology, Georgetown University Hospital, Washington, D.C, 6CNRS UMR 6061 Génétique et Développement, Université de Rennes 1, Groupe Génétique Humaine, IFR140 GFAS, Faculté de médecine, Rennes, France and 7National Eye Insitute/National Human Genome Research Institute, Building 10, Room 10N226; 10 Center Drive, Bethesda, MD 20892 Email: Brian P Brooks* - [email protected]; Jeanne M Meck - [email protected]; Bassem R Haddad - [email protected]; Claude Bendavid - [email protected]; Delphine Blain - [email protected]; Jeffrey A Toretsky - [email protected] * Corresponding author Published: 13 January 2006 Received: 23 May 2005 Accepted: 13 January 2006 BMC Medical Genetics 2006, 7:2 doi:10.1186/1471-2350-7-2 This article is available from: http://www.biomedcentral.com/1471-2350/7/2 © 2006 Brooks et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
    [Show full text]
  • Mutations in ZIC2 in Human Holoprosencephaly: Description of a Novel ZIC2 Specific Phenotype and Comprehensive Analysis of 157 Individuals
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by HAL-Rennes 1 Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. Benjamin Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy Clegg, Mauricio Delgado, Kenneth Rosenbaum, Christ`eleDubourg, V´eroniqueDavid, Ann Haskins Olney, Lars-Erik Wehner, et al. To cite this version: Benjamin Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy Clegg, Mauricio Delgado, et al.. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.. Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. <10.1136/jmg.2009.073049>. <inserm-00439659> HAL Id: inserm-00439659 http://www.hal.inserm.fr/inserm-00439659 Submitted on 9 Dec 2009 HAL is a multi-disciplinary open access L'archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destin´eeau d´ep^otet `ala diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publi´esou non, lished or not. The documents may come from ´emanant des ´etablissements d'enseignement et de teaching and research institutions in France or recherche fran¸caisou ´etrangers,des laboratoires abroad, or from public or private research centers. publics ou priv´es. Mutations in ZIC2 in Human Holoprosencephaly: Comprehensive Analysis of 153 Individuals and Description of a Novel ZIC2-Specfic Phenotype Benjamin D. Solomon1#, Felicitas Lacbawan1,2#, Sandra Mercier3,4, Nancy J. Clegg5, Mauricio R. Delgado5, Kenneth Rosenbaum6, Christèle Dubourg3, Veronique David3, Ann Haskins Olney7, Lars-Erik Wehner8,9, Ute Hehr8,9, Sherri Bale10, Aimee Paulussen11, Hubert J.
    [Show full text]