دورية أكاديمية
أعرض في EDS

Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.

التفاصيل البيبلوغرافية
العنوان: Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.
المؤلفون: Chehimi SN; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil. Electronic address: nchsamar@gmail.com., Almeida VT; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Nascimento AM; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil., Zanardo ÉA; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., de Oliveira YG; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Carvalho GFDS; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Wolff BM; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Montenegro MM; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., de Assunção NA; Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil; Departamento de Química, Instituto de Ciências Ambientais, Químicas e Farmacêuticas, Universidade Federal de São Paulo, Diadema, SP, Brazil., Kim CA; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil., Kulikowski LD; Laboratório de Citogenômica, Departmento de Patologia, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil.
المصدر: Clinics (Sao Paulo, Brazil) [Clinics (Sao Paulo)] 2022 May 28; Vol. 77, pp. 100045. Date of Electronic Publication: 2022 May 28 (Print Publication: 2022).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101244734 Publication Model: eCollection Cited Medium: Internet ISSN: 1980-5322 (Electronic) Linking ISSN: 18075932 NLM ISO Abbreviation: Clinics (Sao Paulo) Subsets: MEDLINE
أسماء مطبوعة: Publication: 2022- : [New York] : Elsevier
Original Publication: São Paulo, SP : Hospital das Clínicas, Faculty of Medicine, University of São Paulo, [2005]-
مواضيع طبية MeSH: Cri-du-Chat Syndrome*/diagnosis , Cri-du-Chat Syndrome*/genetics, Chromosome Deletion ; Chromosomes ; Cytogenetic Analysis ; DNA Copy Number Variations/genetics ; Humans
مستخلص: Objectives: Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies in 5p use traditional cytogenetic techniques and not molecular techniques.
Methods: The authors have investigated 29 patients with clinical suspicion of 5p- syndrome using Chromosomal Microarray (CMA), and have gathered information on previous tests, clinical signs, symptoms, and development of the patients.
Results: The results showed 23 pure terminal deletions, one interstitial deletion, one deletion followed by a 3 Mb duplication in 5p, three cases of 5p deletion concomitant to duplications larger than 20 Mb in chromosomes 2, 9, and 18, and one 5p deletion with a chromosome Y deletion. CMA showed relevant CNVs not typically associated with 5p- that may have contributed to the final phenotype in these patients.
Conclusions: The authors have identified three novel rearrangements between chromosomes 5 and 2 (Patient 27), 5 and 18 (Patient 11), and 5 and Y (Patient 22), with breakpoints and overlapped phenotypes that were not previously described. The authors also highlight the need for further molecular investigation using CMA, in different chromosomes beyond chromosome 5 (since those cases did not show only the typical deletion expected for the 5p- syndrome) to explain discordant chromosomal features and overlapped phenotypes to unravel the cause of the syndrome in atypical cases.
Competing Interests: Conflicts of interest The authors declare no conflicts of interest.
(Copyright © 2022 HCFMUSP. Published by Elsevier España, S.L.U. All rights reserved.)
References: Genet Med. 2020 Feb;22(2):245-257. (PMID: 31690835)
Mol Genet Genomic Med. 2020 Feb;8(2):e957. (PMID: 31568707)
Am J Med Genet A. 2005 Aug 1;136A(4):381-5. (PMID: 16001443)
Am J Med Genet A. 2017 Aug;173(8):2201-2209. (PMID: 28599099)
Eur J Med Genet. 2012 Feb;55(2):140-4. (PMID: 22269966)
Neuropediatrics. 2013 Aug;44(4):225-9. (PMID: 23483447)
J Assist Reprod Genet. 2020 May;37(5):1251-1259. (PMID: 32394194)
Eur J Hum Genet. 2021 Apr;29(4):541-552. (PMID: 33311710)
Orphanet J Rare Dis. 2012 Oct 23;7:81. (PMID: 23088440)
Hum Genet. 1987 Oct;77(2):145-50. (PMID: 3653888)
J Genet Genomics. 2019 Feb;46(2):87-96. (PMID: 30850274)
Cytogenet Genome Res. 2016;149(4):241-246. (PMID: 27665090)
J Med Genet. 2001 Mar;38(3):151-8. (PMID: 11238681)
Clin Genet. 1977 Dec;12(6):319-22. (PMID: 589854)
Am J Med Genet A. 2013 Apr;161A(4):850-5. (PMID: 23494922)
Hum Genet. 1978 Nov 16;44(3):227-75. (PMID: 365706)
Genomics. 2000 Jan 15;63(2):157-64. (PMID: 10673328)
Seizure. 2015 Nov;32:78-83. (PMID: 26552569)
Hum Mol Genet. 2016 Mar 1;25(5):892-902. (PMID: 26721934)
PLoS One. 2016 May 24;11(5):e0154574. (PMID: 27218255)
BMC Med Genet. 2014 Feb 11;15:21. (PMID: 24517234)
Hum Genet. 2016 Oct;135(10):1107-16. (PMID: 27380241)
Brain Dev. 1990;12(6):770-3. (PMID: 2092586)
Nature. 2009 May 28;459(7246):528-33. (PMID: 19404256)
Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. (PMID: 26235846)
J Med Genet. 1997 Sep;34(9):783-6. (PMID: 9321771)
Am J Med Genet A. 2011 Feb;155A(2):450-4. (PMID: 21271672)
فهرسة مساهمة: Keywords: 5p deletion; Copy number variation; Genomic rearrangements; Microarray
تواريخ الأحداث: Date Created: 20220531 Date Completed: 20220603 Latest Revision: 20220716
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC9160337
DOI: 10.1016/j.clinsp.2022.100045
PMID: 35640457
قاعدة البيانات: MEDLINE
الوصف
تدمد:1980-5322
DOI:10.1016/j.clinsp.2022.100045