Prenatal diagnosis of a fetus with Phelan-McDermid syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 841-843, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776792
ABSTRACT
OBJECTIVE@#To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques.@*METHODS@#Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus.@*RESULTS@#SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin.@*CONCLUSION@#Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 22
/
Deleción Cromosómica
/
Hibridación Fluorescente in Situ
/
Trastornos de los Cromosomas
/
Diagnóstico
/
Feto
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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