Maternal X chromosome pericentric inversion resulting in the genetic analysis of offspring pedigrees with deletions at Xp22.33 and Xp22.33p11.3, and duplications at Xq27.3q28: Case report.

IF 1.3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL
Guo-Sheng Deng, Yu-Qing Lai, Bo-Wen Luo, Yu-Di Luo, Ling-Ling Zhu, Zeng-Yu Yang, Keng Feng, De-Rong Li, Xiang Li
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引用次数: 0

Abstract

Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.3, and duplications spanning Xq27.3 to the distal end of the X chromosome's long arm.

Patient concerns: The proband presented with primary infertility, menstrual irregularities, and ultrasound findings indicating a small uterus.

Diagnoses: Peripheral blood G-banded karyotype analysis and single nucleotide polymorphism array analysis revealed a 46,X,rec(X)dup(Xq)inv(X)(p11.3q27)dmat karyotype in the proband, inherited from her mother. Genetic testing identified pathogenic deletions at Xp22.33 and Xp22.33p11.3, and a pathogenic duplication at Xq27.3q28.

Interventions: Genetic counseling and pedigree analysis were conducted to trace the maternal origin of the pericentric inversion and assess recurrence risks.

Outcomes: The study confirmed the maternal X chromosome pericentric inversion caused the observed genetic abnormalities, with a 50% recurrence risk for X-linked inheritance.

Lessons: Maternal X chromosome pericentric inversion significantly affects offspring genetic outcomes. Assisted reproductive technologies, including in vitro fertilization with preimplantation genetic testing, are recommended to reduce recurrence risks in future pregnancies. Prenatal genetic testing is advised for natural conception to ensure fetal genetic health.

母体X染色体周中心反转导致后代家系遗传分析显示Xp22.33和Xp22.33p11.3缺失,Xq27.3q28重复:病例报告。
研究理由:本研究调查了一名女性原发性不孕和身材矮小的遗传原因,重点研究了母体X染色体周中心倒置及其对后代遗传结果的影响,包括Xp22.33和Xp22.33p11.3的缺失,以及Xq27.3到X染色体长臂远端的重复。患者关注:先证者表现为原发性不孕,月经不规则,超声显示子宫小。诊断:先证者外周血g带核型分析和单核苷酸多态性阵列分析显示为46,X,rec(X)dup(Xq)inv(X)(p11.3q27)染色体核型,遗传自母亲。基因检测发现在Xp22.33和Xp22.33p11.3位点有致病性缺失,在Xq27.3q28位点有致病性重复。干预措施:进行遗传咨询和家系分析,追踪中心周围反转的母系来源,评估复发风险。结果:本研究证实母体X染色体周中心倒置导致观察到的遗传异常,X连锁遗传复发风险为50%。经验教训:母体X染色体周中心反转显著影响后代遗传结果。辅助生殖技术,包括植入前基因检测的体外受精,被推荐用于减少未来怀孕的复发风险。建议对自然受孕进行产前基因检测,以确保胎儿基因健康。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Medicine
Medicine 医学-医学:内科
CiteScore
2.80
自引率
0.00%
发文量
4342
审稿时长
>12 weeks
期刊介绍: Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties. As an open access title, Medicine will continue to provide authors with an established, trusted platform for the publication of their work. To ensure the ongoing quality of Medicine’s content, the peer-review process will only accept content that is scientifically, technically and ethically sound, and in compliance with standard reporting guidelines.
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