[一名新发9号染色体异常儿童的临床与细胞遗传学研究]
[Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality].
作者信息
Lu Bi-Yu, Tan Jian-Qiang, Yuan De-Jian, Wang Wen-Dan, Wei Xiao-Ni, Yan Ti-Zhen, Cai Ren
机构信息
Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, Liuzhou, Guangxi 545001, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jan;20(1):52-55. doi: 10.7499/j.issn.1008-8830.2018.01.011.
Abstract
This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation.
摘要
本研究旨在分析9号染色体短臂缺失或重复的临床表型及其与核型的关系。一名6个月大的女性患者因运动发育迟缓前来就诊。核型分析发现9号染色体短臂异常，高通量测序发现9p24.3 - 9p23缺失和9p23 - 9p13.1重复。其父母核型正常。核型分析联合高通量测序对提高运动发育迟缓或合并多种先天性畸形及智力低下患儿的病因诊断效率具有重要意义。
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[Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality].[一名新发9号染色体异常儿童的临床与细胞遗传学研究]
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本文引用的文献
1
Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis.新发单纯9号染色体短臂缺失的临床发现及分子细胞遗传学研究：产前和产后诊断
Taiwan J Obstet Gynecol. 2016 Dec;55(6):867-870. doi: 10.1016/j.tjog.2016.11.001.
2
Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.一名患有新发9号染色体p24至p12倒位重复且发育迟缓的摩洛哥患者的胰岛素样生长因子1缺乏症：病例报告
J Med Case Rep. 2016 May 13;10(1):122. doi: 10.1186/s13256-016-0830-x.
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Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.胎儿多发严重先天畸形的 9p 末端染色体缺失的产前诊断。
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Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.9p 缺失综合征与性别反转：新发现及关键缺失区域的重新定义。
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A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.患者患有 9p 部分重复综合征和自闭症特征，其衍生自 9p 的新标记染色体：基因型-表型相关性。
BMC Med Genet. 2010 Sep 21;11:135. doi: 10.1186/1471-2350-11-135.
6
The European Perinatal Health Report: comparing the health and care of pregnant women and newborn babies in Europe.《欧洲围产期健康报告：比较欧洲孕妇和新生儿的健康与护理情况》
J Epidemiol Community Health. 2009 Sep;63(9):681-2. doi: 10.1136/jech.2009.087296.
7
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.13例荷兰9p缺失综合征患者的临床和细胞遗传学特征：确定共识表型的关键区域
Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310.
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Prenatal diagnosis of mosaic ring chromosome 9.
Prenat Diagn. 2006 Sep;26(9):870-1. doi: 10.1002/pd.1515.
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Partial trisomy 3p/monosomy 9p with sex reversal.3p部分三体/9p部分单体伴性反转
Ultrasound Obstet Gynecol. 2004 Apr;23(4):418-9. doi: 10.1002/uog.1020.
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X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.X连锁智力迟钝：非特异性（MRX）和综合征性（MRXS）形式之间界限的消失
Clin Genet. 2002 Dec;62(6):423-32. doi: 10.1034/j.1399-0004.2002.620601.x.
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