Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies

Background: The phenotype of duplication of 1q21.1 region is variable, ranging from macrocephaly, autism spectrum disorder, congenital anomalies, to a normal phenotype. Few cases have been reported in the literature regarding prenatal diagnosis of 1q21.1 duplication syndrome. The current study prese...

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Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: Ji, Xiuqing, Pan, Qiong, Wang, Yan, Wu, Yun, Zhou, Jing, Liu, An, Qiao, Fengchang, Ma, Dingyuan, Hu, Ping, Xu, Zhengfeng
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2018
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6109635/
https://ncbi.nlm.nih.gov/pubmed/30177949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00275
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