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母体X染色体臂间倒位导致后代家系遗传分析显示Xp22.33和Xp22.33p11.3缺失以及Xq27.3q28重复：病例报告

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.

作者信息

Deng Guo-Sheng, Lai Yu-Qing, Luo Bo-Wen, Luo Yu-Di, Zhu Ling-Ling, Yang Zeng-Yu, Feng Keng, Li De-Rong, Li Xiang

机构信息

Clinical Laboratory, Yulin Maternal and Child Health Care Hospital, Yulin, Guangxi, China.

Perinatal Health Care Department, Yulin Maternal and Child Health Care Hospital, Yulin, Guangxi, China.

出版信息

Medicine (Baltimore). 2025 Jan 10;104(2):e41255. doi: 10.1097/MD.0000000000041255.

DOI:10.1097/MD.0000000000041255
PMID:39792721
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11730400/
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.

摘要

原理

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，重点关注母源X染色体臂间倒位及其对后代遗传结果的影响，包括Xp22.33和Xp22.33p11.3的缺失，以及跨越Xq27.3至X染色体长臂末端的重复。

患者情况

先证者表现为原发性不孕、月经不规律，超声检查发现子宫较小。

诊断

外周血G显带核型分析和单核苷酸多态性阵列分析显示先证者的核型为46,X,rec(X)dup(Xq)inv(X)(p11.3q27)dmat，遗传自其母亲。基因检测确定了Xp22.33和Xp22.33p11.3的致病性缺失，以及Xq27.3q28的致病性重复。

干预措施

进行了遗传咨询和系谱分析，以追溯臂间倒位的母源起源并评估复发风险。

结果

该研究证实母源X染色体臂间倒位导致了观察到的遗传异常，X连锁遗传的复发风险为50%。

经验教训

母源X染色体臂间倒位显著影响后代遗传结果。建议采用辅助生殖技术，包括体外受精联合植入前基因检测，以降低未来妊娠的复发风险。对于自然受孕，建议进行产前基因检测以确保胎儿遗传健康。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/65676fec013b/medi-104-e41255-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/413106003e52/medi-104-e41255-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/7ae221d29b9a/medi-104-e41255-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/ad9d92a0867a/medi-104-e41255-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/4c3478fe7fe0/medi-104-e41255-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/65676fec013b/medi-104-e41255-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/413106003e52/medi-104-e41255-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/7ae221d29b9a/medi-104-e41255-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/ad9d92a0867a/medi-104-e41255-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/4c3478fe7fe0/medi-104-e41255-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f598/11730400/65676fec013b/medi-104-e41255-g005.jpg

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