46,xx / 47，xxy嵌合体伴Y染色体部分缺失1例产前诊断Klinefelter综合征

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-07-01 DOI:10.1016/j.tjog.2024.12.030

Haruna Okubo , Yuki Ito , Tomoko Kawai , Hiromi Kamura , Michihiro Yamamura , Mikiko Kaneko , Akihiro Hasegawa , Ken Takahashi , Masahisa Kobayashi , Hiroshi Kawame , Kenichiro Hata , Osamu Samura , Aikou Okamoto

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引用次数: 0

摘要

目的报道首例46，XX/47，XXY嵌合伴Y染色体部分缺失的病例。病例报告：绒毛膜绒毛取样；由于颈部透明度增加，进行g带（band）；结果显示核型为46，xx。然而，超声检查显示男性型外生殖器。重新分析储存的CVS核板，探讨胎儿性别不一致的原因。结果显示，从Y染色体衍生出一个小的多余标记染色体（sSMC）。婴儿在39周时顺产。婴儿外周血g带和荧光原位杂交显示47，XX, +mar [27]/46,XX [3] ish der(Y) （SRY+,DYZ1-）。脐带血和绒毛膜绒毛的单核苷酸多态性分析显示chrY基因缺失：13,133,449-28,817,579。婴儿表型为男性，24个月时生长发育良好。结论胎儿性别不一致可诊断为46、XX/47、XXY嵌合，可指导产后处理。

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A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome

Objective

Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome.

Case report

Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype. However, ultrasonography revealed male-type external genitalia. The stored CVS nuclear plate was reanalyzed to investigate the cause of the fetal sex discordance. The result showed a mosaic of a small supernumerary marker chromosome (sSMC) derived from Y chromosome. The infant was delivered vaginally at 39 weeks. Peripheral blood G-banding and fluorescence in situ hybridization for the infant indicated 47,XX, +mar [27]/46,XX [3] ish der(Y) (SRY+,DYZ1-). Single nucleotide polymorphism analysis of cord blood and chorionic villi revealed a deletion in chrY: 13,133,449–28,817,579. The infant was phenotypically male, with good growth and development at 24 months.

Conclusion

The fetal sex discordance led to a diagnosis of 46,XX/47,XXY mosaicism, which could guide postnatal management.

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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.