Analysis of a girl with Phelan-McDermid syndrome / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 154-156, 2019.
Article
en Zh
| WPRIM
| ID: wpr-775790
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the value of single nucleotide polymorphism (SNP) array for molecular diagnosis.@*METHODS@#A Chinese girl suspected for Phelan-McDermid syndrome was subjected to routine G-banding chromosomal analysis, SNP array, and fluorescence in situ hybridization (FISH) assaying.@*RESULTS@#G-banding karyotype analysis has found no abnormality in the girl and her parents. SNP array detected a heterozygous 2.1 Mb deletion at 22q13.33 in the girl, which was confirmed by FISH. The same deletion was not found in either parent. FISH analysis found that her father has carried a balance t(4;22) translocation.@*CONCLUSION@#SNP-array has the advantage of high resolution and accuracy, which is valuable for the diagnosis of microdeletion or microduplication syndromes.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Cromosomas Humanos Par 22
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Deleción Cromosómica
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Hibridación Fluorescente in Situ
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Trastornos de los Cromosomas
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Polimorfismo de Nucleótido Simple
Límite:
Female
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Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2019
Tipo del documento:
Article