Genetic analysis of a child with mental retardation and hypospadia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1199-1202, 2019.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-781317
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*METHODS@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*RESULTS@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat.@*CONCLUSION@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Translocação Genética
/
Testes Genéticos
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Bandeamento Cromossômico
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Hibridização in Situ Fluorescente
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Polimorfismo de Nucleotídeo Único
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Duplicação Cromossômica
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Genética
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Hipospadia
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Cariotipagem
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Deficiência Intelectual
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
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Feminino
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Humanos
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Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo