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Tytuł:
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[Genetic analysis of a case with 2q37 microdeletion syndrome].
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Autorzy:
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Lian X; Laboratory of Basic Medicine, Dongfang Hospital (900th Hospital of Joint Logistics Support Force), Xiamen University, Fuzhou, Fujian 350025, China. .
Zhang X
Huang M
Lin J
Zeng J
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Źródło:
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Jan 10; Vol. 39 (1), pp. 81-84.
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Typ publikacji:
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Journal Article
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Język:
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Chinese
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Imprint Name(s):
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Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
Original Publication: Chengdu : Hua xi yi ke da xue,
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MeSH Terms:
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Chromosome Deletion*
Chromosome Banding ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Phenotype
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Entry Date(s):
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Date Created: 20211229 Date Completed: 20211231 Latest Revision: 20211231
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Update Code:
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20240104
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DOI:
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10.3760/cma.j.cn511374-20201020-00730
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PMID:
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34964974
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Objective: To diagnose and fine map a deletion in chromosome region 2q37.
Methods: G-banded chromosomal karyotyping, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism array (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in conjunct for the analysis.
Results: The patient was found to have karyotype of 46,XY,del(2)(q3?), MLPA revealed one copy number of both CAPN10-3 and ATG4B-7 genes from the 2q37.3 region, Both parents were found to be normal upon chromosome karyotyping and MLPA. SNP-array has found a 9.7 Mb deletion in the 2q37.1.37.3 region. FISH analysis has confirmed there is a single copy for 2q37.3.
Conclusion: Combination of MLPA, FISH and SNP-array have enabled accurate diagnosis for the patient, and also provided more clues for the correlation of genotype with the phenotype of the disease, and a basis for genetic counseling.
