A Case of Chromosomal Translocation Combined with Chimeric Marker Chromosome Induced Cri-Du-Chat Syndrome

doi:10.12280/gjszjk.20230093

Abstract

Abstract:

The genetic etiology was comprehensively tested by noninvasive prenatal testing (NIPT), copy number variation sequencing (CNV-seq) and chromosome karyotype analysis in a fetus case with the critical risk of Down′s screening (1/476) in the second trimester of pregnancy. In this fetus, ultrasound found the choroid plexus cyst of left side, and NIPT indicated the high risk of 8.49 Mb deletion of 5p15.2-p15.33. The deletion of p.15.2-p.15.33 of chromosome 5 was indicated by CNV-seq, which was involved in the key regions related to Cri-du-Chat syndrome. Chromosome karyotype analysis showed that the fetal karyotype was 46,XX,der(5)t(5;21) (p15.2;q11.1),-21,+mar dn[85], and that the parental karyotypes were normal, which suggested that the abnormity of fetal karyotype was a new mutation. In this study, a fetus with complex karyotype of Cri-du-Chat syndrome was diagnosed by the multiple prenatal methods. This case enriches the types of chromosome variation in Cri-du-Chat syndrome and demonstrates the importance of multi-method screening and diagnosis for the prevention of birth defects.

Key words: Cri-du-Chat syndrome, Prenatal diagnosis, Noninvasive prenatal testing, Translocation, genetic, Case reports

TIAN Wei-juan, ZHOU Mei-hua, JIANG Lu-xi, ZHANG Qiong. A Case of Chromosomal Translocation Combined with Chimeric Marker Chromosome Induced Cri-Du-Chat Syndrome[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(5): 380-383.

Figures/Tables 2

References 21

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