Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing...

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Autors principals: Funke, B, Edelmann, L, McCain, N, Pandita, R K, Ferreira, J, Merscher, S, Zohouri, M, Cannizzaro, L, Shanske, A, Morrow, B E
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377792/
https://ncbi.nlm.nih.gov/pubmed/10053009
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