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Background : Partial trisomy 14 is an excess long arm of chromosome 14. It is a rare chrmomosomal aberration but it is associated with several fetal abnormalities. Moreover, it is frequently noted as a cause of havitual abortion. Prenatal diagnosis of this abnormality, therefore, is necessary for proper genetic counseling and patient management.
Objective : To report a case with partial trisomy 14.
Results : We reported a case, 37 years old, with a past history of 3 consecutive abortions. This 4th pregnant was prenatal diagnosis by amniocentesis at 19 weeks of gestation. Giemsa banding and husband were genetic counseled and decide to terminate. The phenotypic change of fetus at autopsy was a narrow and small chin. Other organs were grossly unremarkable.
Conclusion : Prenatal detection of fetal chromosomal of fetal chromosome abnormality is useful for obstetrician and gynecologist to genetic counsel and manage patient appropriately.
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