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Document type:
journal article 
Author(s):
Westphal, Dominik S; Andres, Stephanie; Beitzel, Kirsten I; Makowski, Christine; Meitinger, Thomas; Hoefele, Julia 
Title:
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report. 
Abstract:
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcep...    »
 
Journal title abbreviation:
Gene 
Year:
2017 
Journal volume:
616 
Pages contribution:
41-44 
Language:
eng 
Print-ISSN:
0378-1119 
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin