新发9号染色体异常患儿的临床和细胞遗传学研究

陆碧玉; 谭建强; 袁德健; 王文丹; 韦小妮; 严提珍; 蔡稔

doi:10.7499/j.issn.1008-8830.2018.01.011

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中国当代儿科杂志 ›› 2018, Vol. 20 ›› Issue (1) : 52-55. DOI: 10.7499/j.issn.1008-8830.2018.01.011

论著·临床研究

新发9号染色体异常患儿的临床和细胞遗传学研究

陆碧玉, 谭建强, 袁德健, 王文丹, 韦小妮, 严提珍, 蔡稔

作者信息 +

Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality

LU Bi-Yu, TAN Jian-Qiang, YUAN De-Jian, WANG Wen-Dan, WEI Xiao-Ni, YAN Ti-Zhen, CAI Ren

Author information +

文章历史 +

摘要

分析9号染色体短臂缺失或重复患儿的临床表型及其与染色体核型的关系。患者，女，6个月，因运动发育迟缓就诊，染色体核型分析确定为9号染色体短臂异常，高通量测序分析发现存在9p24.3-9p23区域缺失和9p23-9p13.1区域重复，其父母染色体核型分析正常。核型分析结合高通量测序对于提高运动发育落后或多发先天畸形和智力落后患者的病因诊断效率具有重要意义。

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.

导出引用

陆碧玉, 谭建强, 袁德健, 王文丹, 韦小妮, 严提珍, 蔡稔. 新发9号染色体异常患儿的临床和细胞遗传学研究[J]. 中国当代儿科杂志. 2018, 20(1): 52-55 https://doi.org/10.7499/j.issn.1008-8830.2018.01.011

LU Bi-Yu, TAN Jian-Qiang, YUAN De-Jian, WANG Wen-Dan, WEI Xiao-Ni, YAN Ti-Zhen, CAI Ren. Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality[J]. Chinese Journal of Contemporary Pediatrics. 2018, 20(1): 52-55 https://doi.org/10.7499/j.issn.1008-8830.2018.01.011

参考文献

[1] Frints SG, Froyen G, Marynen P, et al. X-linked mental retardation:vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms[J]. Clin Genet, 2002, 62(6):423-432.
[2] Rethore MO, Larget-Piet L, Abonyi D, et al. 4 cases of trisomy forthe short arm of chromosome 9. Individualization of a newmorbid entity[J]. Ann Genet, 1970, 13(4):217-232.
[3] Wilson GN, Raj A, Baker D. The phenotypic and cytogenetic spectrum of partial trisomy 9[J]. Am J Med Genet, 1985, 20(2):277-282.
[4] Huret JL, Leonard C, Forestier B, et al. Eleven new cases of del(9p) and features from 80 case[J]. J Med Genet, 1988, 25(11):741-749.
[5] Swinkels ME, Simons A, Smeets DF, et al. Clinical and cytogenetic characterization of 13 dutch patients with deletion 9p syndrome:delineation of the critical region for a consensus phenotype[J]. Am J Med Genet A, 2008, 146A(11):1430-1438.
[6] Yang HX, Feng JZ, Wei SY, et al. Chromosome karyotype analysis of umbilical blood samples in 2036 newborns[J]. Int Reprod Health Fam Plan, 2014, 33:478-480.
[7] Zeitlin J, Mohangoo A, Cuttini M, et al. The European perinatal health report:comparing the health and care of pregnant women and newborn babies in Europe[J]. J Epidemiol Community Health, 2009, 63(9):681-682.
[8] Abu-Amero KK, Hellani AM, Salih MA, et al. A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features:genotype-phenotype correlation[J]. BMC Med Genet, 2010, 11:135.
[9] Amasdl S, Natiq A, Elalaoui SC, et al. Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay:a case report[J]. J Med Case Rep, 2016, 10(1):122.
[10] Hou QF, Wu D, Chu Y, et al. Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion:Pre and postnatal diagnosis[J]. Taiwan J Obstet Gynecol, 2016, 55(6):867-870.
[11] Onesimo R, Orteschi D, Scalzone M, et al. Chromosome 9p deletion syndrome and sex reversal:novel findings and redefinition of the critically deleted regions[J]. Am J Med Genet A, 2012, 158A(9):2266-2271.
[12] Vialard F, Ottolenghi C, Gonzales M, et al. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses[J]. J Med Genet, 2002, 39(7):514-518.
[13] Witters I, Vermeesch JR, Moerman PH, et al. Partial trisomy 3p/monosomy 9p with sex reversal[J]. Ultrasound Obstet Gynecol, 2004, 23(4):418-419.
[14] Chen CP, Lin CL, Chen LL, et al. Prenatal diagnosis of mosaic ringchromosome 9[J]. Prenat Diagn, 2006, 26(9):870-871.
[15] Hou WC, Chen CP, Hwang KS, et al. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies[J]. Taiwan J Obstet Gynecol, 2014, 53(4):602-605.
[16] 杨尧,王芳,王春枝,等. 孤独症患儿1例遗传学分析[J]. 中国儿童保健杂志, 2012, 20(10):893-895.