Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 498-501, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-771980
ABSTRACT
OBJECTIVE@#To determine the origin of supernumerary small marker chromosomes (sSMCs) carried by two fetuses.@*METHODS@#Single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis were carried out on cells cultured from the amniotic fluid samples.@*RESULTS@#SNP-array analysis showed both fetuses to be arr[hg19]22q11.1q11.21(16 888 899-18 649 190)×4, with a duplicated 1.7 Mb region (16 888 899-18 649 190) leading to partial tetrasomy of 22q11.1-22q11.21. FISH confirmed that both fetuses were 47,XN,+mar.ish idic(22)(q11.2) (RP11-958H20 ++),which suggested a diagnosis of Cat-eye syndrome (CES). The appearance of abortuses were consistent with the diagnosis of CES.@*CONCLUSION@#Two fetuses with CES were diagnosed by genetic testing. The latter has provided a basis for genetic counseling.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 22
/
Anomalías del Ojo
/
Hibridación Fluorescente in Situ
/
Trastornos de los Cromosomas
/
Diagnóstico
/
Feto
/
Cariotipificación
/
Aneuploidia
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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