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高级别染色体非整倍体(HGA)是指由于X或Y染色体数目额外增加导致染色体总数大于47条，是性染色体非整倍体(SCA)的一种罕见情况。2017—2023年在北京协和医院行介入性产前诊断的9 960名孕妇中，诊断胎儿SCA 123例(1.2%),其中HGA仅1例，为49,XXXXY。49,XXXXY是一种具有男性表型的罕见HGA。其发病机制可能与X染色体增加的剂量敏感效应有关。产前可表现为胎儿宫内生长受限，出生后主要表现为中重度智力障碍、运动和语言发育迟缓、性腺功能低下、身材矮小、特征性面容、肌肉骨骼异常等。产前咨询时应充分告知其预后不良的风险。
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基本信息:
中图分类号:R714.5;R440
引用信息:
[1]王明胜,吕嬿,蒋宇林,等.罕见性染色体非整倍体49,XXXXY综合征的产前诊断1例报道并文献复习[J].生殖医学杂志,2024,33(11):1519-1522.
基金信息:
中央高水平医院临床科研业务费资助项目(2022-PUMCH-B-076)
2024-11-15
2024-11-15