Prenatal diagnosis of partial trisomy 3q in a fetus / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 813-816, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776799
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Prenatal Diagnosis
/
Trisomy
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Chromosomes, Human, Pair 3
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Comparative Genomic Hybridization
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Fetus
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Genetics
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Karyotyping
Type of study:
Diagnostic_studies
Limits:
Female
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Humans
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Male
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Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article