A genetic case study of neurofibromatosis type 1-microdeletion syndrome caused by atypical 17q11.2 microdeletion.
10.3760/cma.j.cn511374-20190728-00380
- Author:
Shilin YANG
1
;
Yuqiong JIAO
;
Xiang HAN
;
Yihui CHEN
Author Information
1. Department of Neurology, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China. cyh80h@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(9):976-979
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To provide appropriate treatment strategy and precise genetic counseling through studying the phenotype and genotype of a patient featuring learning difficulty and abnormal gait.
METHODS:Detailed history taking, physical examination and auxiliary examination (including neuropsychological evaluation, brain imaging and skeletal system X ray) were conducted. The patient was also analyzed by whole exome sequencing, G banding karyotyping and array-based comparative genomic hybridization (aCGH). Multiples ligation-dependent probe amplification (MLPA) was applied to his parents to determine the origin of genomic variation.
RESULTS:In addition to obvious dermatological manifestation (Cafe-au-Lait spots), the patient also had facial abnormalities, ocular disorders, skeletal malformations, neurological manifestations, psychiatric and behavioral abnormalities. Whole exome sequencing and G banding karyotyping were both negative. aCGH has identified a microdeletion at 17q11.2, which encompassed the NF1 and neighboring genes. Neither parents has carried the same microdeletion by MLPA analysis.
CONCLUSION:The patient had a de novo 17q11.2 microdeletion, which probably accounted for his neurofibromatosis type 1-microdeletion syndrome phenotype.
