Display Settings:


Send to:

Choose Destination
See comment in PubMed Commons below
Ann Genet. 1996;39(1):26-30.

Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q.

Author information

  • 1Department of Paediatrics, La Sapienza University, Roma, Italy.


A large maternally inherited duplication of 14q and deletion of proximal 15q was observed in a child with myoclonic epilepsy, mental retardation and neuroblast migration disorders (NMDs) detected by MRI. Genetic syndromes associated with NMDs have previously been described. In additional our observations support the connection between major chromosomal imbalances, developmental brain disorders and epilepsy. Thus, in patients with these combinations of symptoms, careful chromosome investigations are recommended.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk