一名患有严重血友病 B 的女性患者出现了与偏好 X 失活相关的 int22h-1/int22h-2 侧翼 Xq28 缺失。

IF 2.4 3区 医学 Q2 HEMATOLOGY
Wan‐Chun Chen, Hsiao‐Jung Kao, Pui‐Yan Kwok, Shyh‐Shin Chiou, Yu‐Ling Kuo, Wan‐Yi Hsu, Ping‐Tao Lu, Cian‐Rong Wu, Pei‐Chin Lin
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引用次数: 0

摘要

一名被诊断患有严重血友病 B 的 5 岁女孩在 19 个月大时开始频繁出现肌肉和关节出血。分子研究(包括桑格测序、Giemsa 染色带检测、人类雄激素受体(HUMARA)检测、基于阵列的比较基因组杂交(aCGH)、全外显子组测序(WES)和多重连接依赖性探针扩增(MLPA))显示,她从母亲那里遗传了一个杂合子因子 IX(F9)内含子 3 替换(c.277+1G>T),以及在 Xq28 区域的 441 kb 基因缺失,该缺失位于 22 号内含子同源区 1(int22h1)和 2(int22h2)的侧翼。这种罕见的遗传特征解释了她的严重表型,并为计划生育遗传咨询提供了指导。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A de novo int22h‐1/int22h‐2‐flanked Xq28 deletion‐associated preferential X‐inactivation in a female with severe hemophilia B
A 5‐year‐old female diagnosed with severe hemophilia B began experiencing frequent muscular and joint bleeds at 19 months old. Molecular studies, including Sanger sequencing, Giemsa banding, human androgen receptor (HUMARA) assay, array‐based comparative genomic hybridization (aCGH), whole‐exome sequencing (WES), and multiplex ligation‐dependent probe amplification (MLPA), revealed a heterozygous factor IX (F9) intron 3 substitution (c.277+1G>T) inherited from her mother and a de novo heterozygous 441 kb deletion in the Xq28 region, which flanked intron 22 homologous regions 1 (int22h1) and 2 (int22h2). This rare genetic profile explains her severe phenotype and guides hereditary consultation for family planning.
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来源期刊
Pediatric Blood & Cancer
Pediatric Blood & Cancer 医学-小儿科
CiteScore
4.90
自引率
9.40%
发文量
546
审稿时长
1.5 months
期刊介绍: Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.
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