Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 534-537, 2017.
Article
em Zh
| WPRIM
| ID: wpr-335089
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.</p><p><b>METHODS</b>The patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.</p><p><b>RESULTS</b>The patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.</p><p><b>CONCLUSION</b>The microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Testes Genéticos
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Bandeamento Cromossômico
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Deleção Cromossômica
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Cromossomos
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Cariótipo
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Genética
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Deficiência Intelectual
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Métodos
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Article