Kandasamy Subapriya, Saxena Deepti, Kishore Yougal, Phadke Shubha R
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, UP, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Indian Pediatr. 2014 May;51(5):411-2. doi: 10.1007/s13312-014-0416-x.
Pediatricians awareness about malformation syndromes can help in their timely diagnosis. Williams syndrome is a microdeletion syndrome associated with characteristic facial features and behavioral phenotype. Diagnosis can be confirmed by fluorescence-in-situ hybridization or multiplex ligation probe amplification. Correct diagnosis can help in diagnosing hypercalcemia and cardiac defects, and providing genetic counseling to the family.
儿科医生对畸形综合征的认识有助于及时诊断。威廉姆斯综合征是一种与特征性面部特征和行为表型相关的微缺失综合征。诊断可通过荧光原位杂交或多重连接探针扩增来确认。正确的诊断有助于诊断高钙血症和心脏缺陷，并为家庭提供遗传咨询。
