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Background: Limited research has been conducted regarding the elucidation of genotype-phenotype correlations within the 20q13.33 region. The genotype-phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype-phenotype relationship.

Methods: Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study. Karyotype analysis and chromosomal microarray analysis (CMA) were performed to investigate chromosomal abnormalities and copy number variants.

Results: The results of high-resolution G-banding karyotype analysis elicited a 46,XY,der(20)add(20)(q13.3) in Patient 1. This patient exhibited various clinical manifestations, such as global developmental delay, intellectual disability, seizures, and other congenital diseases. Subsequently, a 1.0-Mb deletion was identified in the 20q13.33 region alongside a 5.2-Mb duplication in the 14q32.31q32.33 region. In Patient 2, CMA results revealed a 1.8-Mb deletion in the 20q13.33 region with a 4.8-Mb duplication of 17q25.3. The patient exhibited additional abnormal clinical features, including micropenis, congenital heart disease, and a distinctive crying pattern characterized by a crooked mouth.

Conclusion: In the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion.

Titel:	Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.
Autor/in / Beteiligte Person:	Zhuang, J ; Zhang, N ; Wang, J ; Jiang, Y ; Zhang, H ; Chen, C
Link:	Full Text Finder (Volltext)
Zeitschrift:	Molecular genetics & genomic medicine, Jg. 12 (2024-04-01), Heft 4, S. e2429
Veröffentlichung:	[Hoboken, NJ] : John Wiley & Sons, [2013]-, 2024
Medientyp:	academicJournal
ISSN:	2324-9269 (electronic)
DOI:	10.1002/mgg3.2429
Schlagwort:	Child Humans Karyotyping Karyotype Chromosome Structures Intellectual Disability genetics Genital Diseases, Male Penis abnormalities
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2429. MeSH Terms: Chromosome Structures* ; Intellectual Disability* / genetics ; Genital Diseases, Male* ; Penis / *abnormalities ; Child ; Humans ; Karyotyping ; Karyotype References: Mol Cytogenet. 2019 Dec 11;12:50. (PMID: 31857824) ; Neurosci Bull. 2018 Dec;34(6):981-991. (PMID: 29948840) ; Epilepsy Behav Case Rep. 2013 Mar 01;1:35-8. (PMID: 25667822) ; Pediatr Neurol. 2011 Aug;45(2):117-20. (PMID: 21763953) ; Am J Hum Genet. 2010 May 14;86(5):749-64. (PMID: 20466091) ; Am J Med Genet A. 2004 Aug 1;128A(4):352-63. (PMID: 15264280) ; Eur J Hum Genet. 2007 Apr;15(4):446-52. (PMID: 17290276) ; Ann Neurol. 2012 Jan;71(1):15-25. (PMID: 22275249) ; Genet Med. 2011 Jul;13(7):680-5. (PMID: 21681106) ; Orphanet J Rare Dis. 2015 Jun 14;10:75. (PMID: 26070612) ; Nat Genet. 1998 Jan;18(1):25-9. (PMID: 9425895) ; Am J Med Genet A. 2012 Dec;158A(12):3190-5. (PMID: 23166088) ; Am J Med Genet A. 2013 Jun;161A(6):1505-7. (PMID: 23613186) ; Am J Med Genet A. 2015 Feb;167A(2):412-6. (PMID: 25424318) ; Nat Genet. 2010 Dec;42(12):1109-12. (PMID: 21076407) ; Mol Syndromol. 2020 Feb;11(1):38-42. (PMID: 32256300) ; Pediatr Ann. 2018 Mar 1;47(3):e130-e134. (PMID: 29538787) ; Nat Genet. 1995 Oct;11(2):201-3. (PMID: 7550350) ; Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):52-56. (PMID: 31922597) ; Genet Med. 2010 Nov;12(11):742-5. (PMID: 20962661) ; Am J Med Genet A. 2007 Aug 15;143A(16):1894-9. (PMID: 17632785) ; Am J Hum Genet. 2018 May 3;102(5):995-1007. (PMID: 29656858) ; Mol Genet Genomic Med. 2024 Apr;12(4):e2429. (PMID: 38553934) ; Am J Med Genet A. 2005 Oct 15;138A(3):288-93. (PMID: 16158442) ; Mol Cytogenet. 2021 Sep 29;14(1):46. (PMID: 34587985) ; Genes (Basel). 2021 Sep 07;12(9):. (PMID: 34573370) ; Clin Case Rep. 2018 Feb 14;6(4):612-616. (PMID: 29636925) ; Genet Couns. 2010;21(1):25-34. (PMID: 20420026) ; PLoS One. 2010 Aug 27;5(8):e12462. (PMID: 20805988) ; J Med Genet. 1993 Feb;30(2):171-3. (PMID: 8445626) Grant Information: 2020QNB045 Fujian Provincial Science and Technology Project; 2023NS068 Quanzhou Science and Technology Program of China Contributed Indexing: Keywords: 14q32.31q32.33 microduplication; 17q25.3 microduplication; 20q13.33 microdeletion; chromosomal microarray analysis; copy number variants SCR Disease Name: Penis agenesis Entry Date(s): Date Created: 20240330 Date Completed: 20240401 Latest Revision: 20240401 Update Code: 20240401 PubMed Central ID: PMC10980884

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Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.