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.
Article
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Délétion de segment de chromosome
/
Hybridation fluorescente in situ
/
Polymorphisme de nucléotide simple
/
Diagnostic
/
Syndrome de Jacobsen
/
Foetus
/
Caryotypage
/
Déficience intellectuelle
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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