Complex rearrangements of Y chromosome suggest RPS4Y1 as lymphedema candidate gene

Po Fan Chen, Long Ching Kuan, Chiu Ching Kao, Hui Kuo Hsu, Ming Chen, Tsung Cheng Kuo, Pao Lin Kuo

Research output: Contribution to journalArticlepeer-review


Objective: Cystic hygromas are frequently encountered in fetus with Turner syndrome (TS). Nevertheless, identification of genetic loci responsible for the cystic hygroma has been problematic. Here, we tried to elucidate the candidate gene for cystic hygroma through a rare case of complex Y chromosomal rearrangements involving duplication of partial Yq and monosomy of partial Yp. Case report: A 30-year-old woman, gravida 1 para 0, was diagnosed with fetal cystic hygroma at 12 weeks of gestation. The genetic analysis of the product of conception revealed complex rearrangement of Y chromosome: microdeletion in Yp11.2p11.31 and microduplicatin in Yq11.223q11.23. The deleted region spans about 6.25 Mb and includes 76 genes, including SRY. The duplicated region spans about 4.76 Mb and includes 145 genes. Conclusion: From this rare case with non-mosaic complex Y-chromosome rearrangements, we could narrow down Turner stigmata critical region to Yp11.2~p11.3. We also propose RPS4Y1 as lymphedema candidate gene.

Original languageEnglish
Pages (from-to)170-173
Number of pages4
JournalTaiwanese Journal of Obstetrics and Gynecology
Issue number1
Publication statusPublished - 2022 Jan

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology


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