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[Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10; 34(5):695-698.ZY

Abstract

OBJECTIVE

To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.

METHODS

Neuropsychological 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.

RESULTS

The 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.

CONCLUSION

The de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient.

Authors+Show Affiliations

Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. wanghongdan5495@163.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

chi

PubMed ID

28981936

Citation

Wang, Hongdan, et al. "[Phenotypic and Genetic Analysis of a Child Carrying a 17q11.2 Microdeletion]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 34, no. 5, 2017, pp. 695-698.
Wang H, Feng Z, Yang K, et al. [Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34(5):695-698.
Wang, H., Feng, Z., Yang, K., Gao, Y., Huo, X., Qin, L., & Lou, G. (2017). [Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 34(5), 695-698. https://doi.org/10.3760/cma.j.issn.1003-9406.2017.05.017
Wang H, et al. [Phenotypic and Genetic Analysis of a Child Carrying a 17q11.2 Microdeletion]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):695-698. PubMed PMID: 28981936.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion]. AU - Wang,Hongdan, AU - Feng,Zhanqi, AU - Yang,Ke, AU - Gao,Yue, AU - Huo,Xiaodong, AU - Qin,Litao, AU - Lou,Guiyu, PY - 2017/10/6/entrez PY - 2017/10/6/pubmed PY - 2018/3/14/medline SP - 695 EP - 698 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 34 IS - 5 N2 - OBJECTIVE: To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype. METHODS: Neuropsychological 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. RESULTS: The 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. CONCLUSION: The de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/28981936/[Phenotypic_and_genetic_analysis_of_a_child_carrying_a_17q11.2_microdeletion] DB - PRIME DP - Unbound Medicine ER -