Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 826-288, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776796
ABSTRACT
OBJECTIVE@#To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID).@*METHODS@#The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome.@*CONCLUSION@#Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Polimorfismo de Nucleotídeo Único
/
Diagnóstico
/
Síndrome da Deleção Distal 11q de Jacobsen
/
Feto
/
Cariotipagem
/
Deficiência Intelectual
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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