与正常表型相关的遗传性Xq24q25缺失的产前诊断和遗传咨询。
Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype.
作者信息
Zhou Yaqing, Zhang Mingxi, Zhu Yanmin, Zhao Qi
机构信息
Reproductive Center Laboratory, Ninghai County Maternal and Child Health Hospital, Ningbo, Zhejiang, People's Republic of China.
Department of Internal Medicine, Wuhan Hospital of Traditional Chinese Medicine, Wuhan, Hubei, People's Republic of China.
出版信息
Mol Cytogenet. 2022 Nov 3;15(1):49. doi: 10.1186/s13039-022-00626-w.
BACKGROUND
Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm.
CASE PRESENTATION
A 28-year-old, gravida 1, para 0, woman underwent amniocentesis at 17 weeks of gestation because the noninvasive prenatal testing (NIPT) results revealed a 9.8 Mb deletion from Xq24 to Xq25. GTG-banding karyotype analysis was performed on cultured amniocytes. Chromosomal microarray analysis (CMA) on uncultured amniocytes was performed.
RESULTS
Chromosomal GTG-banding of the cultured amniocytes revealed a karyotype of 46,XX. CMA detected a 9.5-Mb chromosomal deletion in the region of Xq24q25 (arr[GRCh37] Xq24q25(118,975,436_128,444,692) × 1).
CONCLUSION
The present report highlights that an integration of prenatal ultrasound, NIPT, karyotype analysis, CMA and genetic counseling is helpful for the prenatal diagnosis of chromosomal deletions/duplications.
背景
拷贝数变异（CNV）是正常和致病基因组变异的重要来源。如果产前病例中鉴定出的CNV是无害或有害的变异，需要仔细考虑并正确解释。
病例介绍
一名28岁、孕1产0的女性在妊娠17周时接受了羊膜穿刺术，因为无创产前检测（NIPT）结果显示Xq24至Xq25存在9.8 Mb的缺失。对培养的羊水细胞进行了GTG带核型分析。对未培养的羊水细胞进行了染色体微阵列分析（CMA）。
结果
培养的羊水细胞的染色体GTG带显示核型为46,XX。CMA在Xq24q25区域检测到一个9.5 Mb的染色体缺失（arr[GRCh37] Xq24q25(118,975,436_128,444,692)×1）。
结论
本报告强调，产前超声、NIPT、核型分析、CMA和遗传咨询相结合有助于染色体缺失/重复的产前诊断。
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