[Systematic genetic analysis for a case with duplication 9p].
作者信息
Zhang Jianlin, Li Haibo, Jiang Shenghua, Li Hong, Zhang Yuquan
机构信息
Department of Gynaecology and Obstetrics, The Hospital Affiliated to Nantong University, Nantong, Jiangsu 226001, P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):237-9. doi: 10.3760/cma.j.issn.1003-9406.2015.02.019.
OBJECTIVE
To identify the genetic cause for a case with growth retardation and mental retardation.
METHODS
After conventional peripheral blood karyotyping with G-banding, the abnormal chromosome was identified as suspicious 9p duplication by multiplex ligation dependent probe amplification (MLPA) .
RESULTS
The proband's karyotype was suspicious 46,XY,der(9)t(9;14)(q13;q11.2), then the abnormal chromosome 9 was identified as 9p duplication with MLPA. The 9p duplication occurs because of a balanced chromosomal rearrangement between two chromosomes of 9 and 14 in the proband's father.
CONCLUSION
9p11.2-p24.3 duplication is the cause of abnormal phenotypes in the child patient. Cytogenetic methods combined with MLPA can efficiently identify abnormal chromosomes and provide accurate results for clinical diagnosis and treatment.
Zotero 插件