Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete deletion type of Duchenne muscular dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 869-872, 2021.
Article
de Zh
| WPRIM
| ID: wpr-921958
Bibliothèque responsable:
WPRO
ABSTRACT
OBJECTIVE@#To identify the etiology of a patient with severe symptoms of DMD and to trace its pathogenic gene, so as to provide a basis for genetic counseling and clinical intervention.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) technique was used to analyze exon deletion/repetitive variant of DMD gene, and further analysis was performed by chromosome G-banding, fluorescence in situ hybridization (FISH) and SNP array analysis.@*RESULTS@#The MLPA results of the proband showed that the exon 1-79 of DMD gene were deleted, the G-banding karyotype of blood sample was 46, XY, and the deletion of the short arm of X chromosome was found by FISH. SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was diagnosed as the contiguous deletion syndrome involving the genes of IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM47, and FAM47B.@*CONCLUSION@#The exact pathogenic site of this family is the deletion of 5.8 Mb (29 628 158-35 434 714) in the Xp21.2p21.1 region of X chromosome, which can be used for prenatal diagnosis. High resolution SNP array technique plays an important role in detecting potential chromosome abnormalities in patients.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Diagnostic prénatal
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Exons
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Dystrophine
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Hybridation fluorescente in situ
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Délétion de gène
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Myopathie de Duchenne
Type d'étude:
Diagnostic_studies
Limites du sujet:
Female
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Humans
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Pregnancy
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article