Clinical Genetics
Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion
Hongdan Wang, Zhanqi Feng, Ke Yang, Yue Gao, Xiaodong Huo, Litao Qin, Guiyu Lou
Published 2017-10-10
Cite as Chin J Med Genet, 2017, 34(5): 695-698. DOI: 10.3760/cma.j.issn.1003-9406.2017.05.017
Abstract
ObjectiveTo analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.
MethodsNeuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities.
ResultsThe child had mental retardation, maxillofacial dysmorphism on the right side, and irregular solid nodules on the back. The karyotypes of the child and his parents were all normal, while aCGH has identified a de novo constitutive 1.2 Mb deletion at 17q11.2 in the child. The aCGH results of his parents were normal.
ConclusionThe de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient.
Key words:
17q11.2 microdeletion; Array comparative genomic hybridization; Neurofibromatosis type 1
Contributor Information
Hongdan Wang
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
Zhanqi Feng
Department of Urology, The First People’s Hospital of Zhengzhou, Zhengzhou, Henan 450004, China
Ke Yang
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
Yue Gao
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
Xiaodong Huo
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
Litao Qin
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
Guiyu Lou
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
