Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development
Crossref DOI link: https://doi.org/10.1186/s13039-016-0220-5
Published Online: 2016-02-04
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Jespersgaard, Cathrine
Damgaard, Ida N.
Cornelius, Nanna
Bache, Iben
Knabe, Niels
Miranda, Maria J.
Tümer, Zeynep