Analysis of chromosomal abnormalities and a report of eight new karyotypes among children in genetic counseling / 中国当代儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the relationship between abnormal karyotypes and clinical phenotypes among children in genetic counseling in Guangxi Zhuang Autonomous Region, China.</p><p><b>METHODS</b>We studied 601 children who visited Guangxi Zhuang Autonomous Region Women and Children Care Hospital for genetic counseling between January 2009 and July 2012. Blood samples were cultured routinely for karyotype analysis with G banding as well as clinical analysis.</p><p><b>RESULTS</b>Out of 601 patients, 329 (54.7%) had chromosomal abnormalities, and 8 new abnormal human karyotypes were found. Among 329 children with abnormal karyotypes, 317 (96.4%) had an abnormal number of chromosomes, and 12 (3.6%) had abnormal chromosomal structure. Abnormal karyotypes were clinically manifested by Down's syndrome (74.5%), growth retardation (10.9%), and mental retardation (3.0%).</p><p><b>CONCLUSIONS</b>Eight rare abnormal karyotypes were found in the study, providing new resources for the genetic studies and etiological analysis of growth retardation, mental retardation, gonadal dysgenesis, and multiple congenital anomalies in children.</p>