Prenatal Diagnosis of A Case of 47, XN, -18, +inv(18)(p11q21.1), +inv(18)(p11q21.1)

doi:10.12280/gjszjk.20210614

Abstract

Abstract:

The genetic etiology was tested by the conventional karyotype analysis technology in a fetus case with the high risk of 18-trisomy found by serological screening. Ultrasound found the fetal growth restriction (FGR), ventricular septal defect, the mergered cleft lip and cleft palate, and the right side of choroid plexus cyst in this case. The pedigree and genetic etiological analysis was then conducted. The results showed that the fetus carried one normal chromosome 18 and two inverted derived chromosomes of chromosome 18 at the same time. Parental chromosome karyotypes indicated that the two derived chromosomes 18 should be inherited from the mother. This case report enriched the karyotype variation type of trisomy 18 syndrome, and provided a new reference for the future prenatal diagnosis and clinical consultation.

Key words: Chromosome inversion, Prenatal diagnosis, Karyotyping, Trisomy, Trisomy 18 syndrome

LI Yan-qing, FU Wan-yu, ZHUANG Jian-long. Prenatal Diagnosis of A Case of 47, XN, -18, +inv(18)(p11q21.1), +inv(18)(p11q21.1)[J]. Journal of International Reproductive Health/Family Planning, 2022, 41(2): 119-120.

Figures/Tables 1

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