KBG综合征的首例产前诊断：16号染色体q24.2q24.3区域的微缺失，该区域包含多个与该疾病相关的基因，包括ANKRD11。
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder.
作者信息
Hodgetts Morton Victoria, Quinlan-Jones Elizabeth, Butts Natasha, Williams Denise, Hamilton Sue, Marton Tamas, Morris Katie
机构信息
Birmingham Women's Hospital Mindelsohn Way Birmingham B15 2TG UK.
Institute of Metabolism and Systems Research University of Birmingham Birmingham B15 2 TT UK.
出版信息
Clin Case Rep. 2017 Dec 11;6(1):189-191. doi: 10.1002/ccr3.1285. eCollection 2018 Jan.
The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole-exome sequencing antenatally, we must describe the genetic abnormalities, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling.
ANKRD11基因缺失可确诊KBG综合征，但无法阐明小儿表型，这给遗传咨询带来了挑战。随着产前诊断的扩展以及产前进行全外显子测序的可能性，我们必须同时描述基因异常、产前超声检查结果和表型，以便于进行遗传咨询。
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