Jing Zhou1, Ping Hu, An Liu, Li Li, Xiuqing Ji, Weirong Hui, Yan Wang, Zhengfeng Xu. 1. Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, P.R.China. njxzf@126.com; njfybjyhuping@163.com.
Abstract
OBJECTIVE: To analyze a child with developmental delay, severe mental retardation, speech delay and muscular hypotonia. METHODS: The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was also analyzed with array comparative genomic hybridization (array-CGH). RESULTS: No karyotypic abnormality was detected at cytogenetic level. However, array-CGH has identified a de novo 4q21.21-q22.1 deletion in the child, which has a size of 12.1 Mb. CONCLUSION: The de novo interstitial 4q21.21-q22.1 deletion probably underlies the main clinical manifestation in the child. Array-CGH is useful for diagnosing children with multiple congenital anomalies with unclear etiology.
OBJECTIVE: To analyze a child with developmental delay, severe mental retardation, speech delay and muscular hypotonia. METHODS: The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was also analyzed with array comparative genomic hybridization (array-CGH). RESULTS: No karyotypic abnormality was detected at cytogenetic level. However, array-CGH has identified a de novo 4q21.21-q22.1 deletion in the child, which has a size of 12.1 Mb. CONCLUSION: The de novo interstitial 4q21.21-q22.1 deletion probably underlies the main clinical manifestation in the child. Array-CGH is useful for diagnosing children with multiple congenital anomalies with unclear etiology.
Authors: Katalin Komlósi; Balázs Duga; Kinga Hadzsiev; Márta Czakó; György Kosztolányi; András Fogarasi; Béla Melegh Journal: Mol Cytogenet Date: 2015-03-03 Impact factor: 2.009