Cytogenetic examination in 885 cytogenetic consultation cases

VernacularTitle:885例遗传咨询者的细胞遗传学分析
Author: Wenjun XIAO ; Zhenkui GAO ; Li LI ; Jia LI ; Man ZHANG
Publication Type:Journal Article
Keywords: cytogenetics; chromosome abnormality; karyotyping
From: Chongqing Medicine 2014;(14):1744-1746
CountryChina
Language:Chinese
Abstract: Objective In order to get reference data for diagnosis of clinical genetic disease through analyzing chromosome ab‐normality types and rates in 885 patients who ask for cytogenetics consultation in recent years .Methods 324 newborns who asked for cytogenetics consultation because of high risk factors in down′s screening during pregnancy or found abnormality in physical ex‐amination after birth and 561 patients with history of spontaneous abortion ,infertility or fetal death ,growth or mental retardation , sexual abnormality were examined for karyotype analysis .Results 116 cases of chromosome abnormal karyotypes were detected , count for 13 .11% ,among which ,40 cases(34 .48% ) are chromosomal aberration .Chromosome abnormality types and rates are dif‐ferent in patients with different type of diseases .Conclusion Abnormalities in chromosome numbers and sex chromosome abnor‐mality account for the main causes of growth and mental retardation ,abnormalities of sexual differentiation and development ;but for couples suffered from spontaneous abortion ,polymorphism and structure abnormalities takes up the highest portion .