[Prenatal diagnosis of partial trisomy 3q in a fetus].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 813-816, 2019 Aug 10.
Article
en Zh
| MEDLINE
| ID: mdl-31400135
ABSTRACT
OBJECTIVE:
To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality.METHODS:
Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis.RESULTS:
The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal.CONCLUSION:
3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Trisomía
/
Cromosomas Humanos Par 3
Tipo de estudio:
Diagnostic_studies
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article