一名患有脑瘫和面部畸形的7q11.23微重复患者。
A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism.
作者信息
Değerliyurt A, Ceylaner S, Ozdağ H
机构信息
Department of Pediatric Neurology, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Ankara, Turkey.
出版信息
Genet Couns. 2012;23(2):263-7.
PMID:22876586
Abstract
We report an 11year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department since she was 3 months old. We emphasize that the facial phenotype by itself should arise suspicion of the 7q11.23 duplication.
摘要
我们报告了一名11岁女性，因其面部外观不典型，在3个月大时于儿科神经科被诊断为癫痫和脑瘫并接受随访期间，通过阵列比较基因组杂交（array-CGH）检测发现7q11.23微重复。我们强调，仅凭面部表型本身就应引起对7q11.23重复的怀疑。
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