Lessons learned from a child with a chromosomal abnormality but no major congenital anomalies.
作者信息
Zhou Shijie, Colaiacovo Samantha, Djolovic Andrea, Saleh Maha
机构信息
Schulich School of Medicine and Dentistry, Western University, London, Ontario.
Division of Medical Genetics, Department of Paediatrics, London Health Sciences Centre, Western University, London, Ontario.
出版信息
Paediatr Child Health. 2020 Jul 28;26(3):139-140. doi: 10.1093/pch/pxaa080. eCollection 2021 Jun.
Abstract
摘要
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本文引用的文献
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Clin Genet. 2016 May;89(5):630-5. doi: 10.1111/cge.12696. Epub 2016 Jan 4.
2
Duplication 9p and their implication to phenotype.9号染色体短臂重复及其对表型的影响。
BMC Med Genet. 2014 Dec 20;15:142. doi: 10.1186/s12881-014-0142-1.
3
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family.在一个四代家族中，3号染色体短臂26.3区的末端缺失与畸形特征和智力残疾无关。
Am J Med Genet A. 2014 Nov;164A(11):2863-8. doi: 10.1002/ajmg.a.36700. Epub 2014 Aug 13.
4
Developing standards for chromosomal microarray testing counselling in paediatrics.制定儿科染色体微阵列检测咨询标准。
Acta Paediatr. 2014 Jun;103(6):574-7. doi: 10.1111/apa.12601. Epub 2014 Mar 17.
5
Array-CGH study of partial trisomy 9p without mental retardation.Array-CGH 研究非智力发育迟缓的部分 9p 三体
Am J Med Genet A. 2011 Jul;155A(7):1735-9. doi: 10.1002/ajmg.a.34044. Epub 2011 May 27.
6
Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.具有几乎正常表型和轻度认知缺陷的3p26缺失/8q24.3重复病例的核型-表型分析及分子界定
Am J Med Genet A. 2006 Feb 15;140(4):388-91. doi: 10.1002/ajmg.a.31066.
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