Literature DB >> 27878741

Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder.

Serkan Güneş1, Özalp Ekinci2, Nuran Ekinci2, Fevziye Toros2.   

Abstract

Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

Entities:  

Keywords:  9p; Autism; Deletion

Mesh：

Year:  2017        PMID： 27878741     DOI： 10.1007/s10803-016-2943-x

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN： 0162-3257


  9 in total

1.  Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.

Authors:  G Vinci; S Chantot-Bastaraud; B El Houate; S Lortat-Jacob; R Brauner; K McElreavey
Journal:  Mol Hum Reprod       Date:  2007-07-20       Impact factor: 4.025

2.  Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

Authors:  Israela Lerer; Michal Sagi; Vardiella Meiner; Tirza Cohen; Joel Zlotogora; Dvorah Abeliovich
Journal:  Hum Mol Genet       Date:  2005-11-21       Impact factor: 6.150

3.  Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder.

Authors:  C-P Chen; S-P Lin; J-W Su; M-S Lee; W Wang
Journal:  Genet Couns       Date:  2012

4.  Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.

Authors:  Roberta Onesimo; Daniela Orteschi; Maria Scalzone; Aurora Rossodivita; Lorenzo Nanni; Gian Franco Zannoni; Giacinto Marrocco; Domenica Battaglia; Carlo Fundarò; Giovanni Neri
Journal:  Am J Med Genet A       Date:  2012-07-20       Impact factor: 2.802

5.  Genetics of autism spectrum disorders.

Authors:  Daniel H Geschwind
Journal:  Trends Cogn Sci       Date:  2011-08-18       Impact factor: 20.229

6.  Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation.

Authors:  Yao Yang; Chunzhi Wang; Fang Wang; Lina Zhu; Haihong Liu; Xiyu He
Journal:  Gene       Date:  2012-04-24       Impact factor: 3.688

7.  A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

Authors:  Khaled K Abu-Amero; Ali M Hellani; Mustafa A Salih; Mohammad Z Seidahmed; Tageldin S Elmalik; Ghassan Zidan; Thomas M Bosley
Journal:  BMC Med Genet       Date:  2010-09-21       Impact factor: 2.103

8.  Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:  Peter Szatmari; Andrew D Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao-Qing Liu; John B Vincent; Jennifer L Skaug; Ann P Thompson; Lili Senman; Lars Feuk; Cheng Qian; Susan E Bryson; Marshall B Jones; Christian R Marshall; Stephen W Scherer; Veronica J Vieland; Christopher Bartlett; La Vonne Mangin; Rhinda Goedken; Alberto Segre; Margaret A Pericak-Vance; Michael L Cuccaro; John R Gilbert; Harry H Wright; Ruth K Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph D Buxbaum; Kenneth L Davis; Eric Hollander; Jeremy M Silverman; Joachim Hallmayer; Linda Lotspeich; James S Sutcliffe; Jonathan L Haines; Susan E Folstein; Joseph Piven; Thomas H Wassink; Val Sheffield; Daniel H Geschwind; Maja Bucan; W Ted Brown; Rita M Cantor; John N Constantino; T Conrad Gilliam; Martha Herbert; Clara Lajonchere; David H Ledbetter; Christa Lese-Martin; Janet Miller; Stan Nelson; Carol A Samango-Sprouse; Sarah Spence; Matthew State; Rudolph E Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William M McMahon; Nancy Minshew; Jeff Munson; Elena Korvatska; Patricia M Rodier; Gerard D Schellenberg; Moyra Smith; M Anne Spence; Chris Stodgell; Ping Guo Tepper; Ellen M Wijsman; Chang-En Yu; Bernadette Rogé; Carine Mantoulan; Kerstin Wittemeyer; Annemarie Poustka; Bärbel Felder; Sabine M Klauck; Claudia Schuster; Fritz Poustka; Sven Bölte; Sabine Feineis-Matthews; Evelyn Herbrecht; Gabi Schmötzer; John Tsiantis; Katerina Papanikolaou; Elena Maestrini; Elena Bacchelli; Francesca Blasi; Simona Carone; Claudio Toma; Herman Van Engeland; Maretha de Jonge; Chantal Kemner; Frederieke Koop; Frederike Koop; Marjolein Langemeijer; Marjolijn Langemeijer; Channa Hijmans; Channa Hijimans; Wouter G Staal; Gillian Baird; Patrick F Bolton; Michael L Rutter; Emma Weisblatt; Jonathan Green; Catherine Aldred; Julie-Anne Wilkinson; Andrew Pickles; Ann Le Couteur; Tom Berney; Helen McConachie; Anthony J Bailey; Kostas Francis; Gemma Honeyman; Aislinn Hutchinson; Jeremy R Parr; Simon Wallace; Anthony P Monaco; Gabrielle Barnby; Kazuhiro Kobayashi; Janine A Lamb; Ines Sousa; Nuala Sykes; Edwin H Cook; Stephen J Guter; Bennett L Leventhal; Jeff Salt; Catherine Lord; Christina Corsello; Vanessa Hus; Daniel E Weeks; Fred Volkmar; Maïté Tauber; Eric Fombonne; Andy Shih; Kacie J Meyer
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330

9.  Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder.

Authors:  Kavita S Reddy
Journal:  BMC Med Genet       Date:  2005-01-18       Impact factor: 2.103
  9 in total
  5 in total

1.  Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.

Authors:  Yoichiro Oda; Yuri Uchiyama; Ai Motomura; Atsushi Fujita; Yoshiteru Azuma; Yutaka Harita; Takeshi Mizuguchi; Kumiko Yanagi; Hiroko Ogata; Kenichiro Hata; Tadashi Kaname; Yoichi Matsubara; Keiko Wakui; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2019-07-16       Impact factor: 3.172

2.  Exposure to sevoflurane results in changes of transcription factor occupancy in sperm and inheritance of autism†.

Authors:  Hsiao-Lin V Wang; Samantha Forestier; Victor G Corces
Journal:  Biol Reprod       Date:  2021-09-14       Impact factor: 4.285

Review 3.  DMRT Transcription Factors in the Control of Nervous System Sexual Differentiation.

Authors:  Rafael Casado-Navarro; Esther Serrano-Saiz
Journal:  Front Neuroanat       Date:  2022-07-26       Impact factor: 3.543

4.  From karyotypes to precision genomics in 9p deletion and duplication syndromes.

Authors:  Eleanor I Sams; Jeffrey K Ng; Victoria Tate; Ying-Chen Claire Hou; Yang Cao; Lucinda Antonacci-Fulton; Khadija Belhassan; Julie Neidich; Robi D Mitra; F Sessions Cole; Patricia Dickson; Jeffrey Milbrandt; Tychele N Turner
Journal:  HGG Adv       Date:  2021-12-24

5.  Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Authors:  Amal M Mohamed; Alaa K Kamel; Maha M Eid; Ola M Eid; Mona Mekkawy; Shymaa H Hussein; Maha S Zaki; Samira Esmail; Hanan H Afifi; Ghada Y El-Kamah; Ghada A Otaify; Heba Ahmed El-Awady; Aya Elaidy; Mahmoud Y Essa; Mona El-Ruby; Engy A Ashaat; Saida A Hammad; Inas Mazen; Ghada M H Abdel-Salam; Mona Aglan; Samia Temtamy
Journal:  Mol Genet Genomic Med       Date:  2021-10-05       Impact factor: 2.183
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.