Analysis of a girl with Phelan-McDermid syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 154-156, 2019.
Article
in Zh
| WPRIM
| ID: wpr-775790
Responsible library:
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.
Full text:
1
Index:
WPRIM
Main subject:
Chromosomes, Human, Pair 22
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Chromosome Deletion
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In Situ Hybridization, Fluorescence
/
Chromosome Disorders
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Polymorphism, Single Nucleotide
Limits:
Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article