Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

TitoloIdentification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Publication TypeJournal Article
Year of Publication1997
AuthorsFink, J. M., Dobyns W. B., Guerrini R., and Hirsch B. A.
JournalAmerican journal of human genetics
Volume61
Issue2
Pagination379-87
Date Published1997 Aug
Abstract

Bilateral periventricular nodular heterotopia (BPNH) is a malformation of neuronal migration and is characterized by nodules of heterotopic gray matter lining the lateral ventricles of the brain. The majority of BPNH patients are female and have epilepsy as a sole clinical manifestation of their disease. Familial BPNH has been mapped to Xq28 by linkage analysis. A multiple congenital anomaly-mental retardation syndrome (BPNH/MR) was recently delineated in three unrelated boys with BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. High-resolution chromosome analysis revealed a subtle abnormality of Xq28 in one of the boys with BPNH/MR syndrome. FISH with cosmids and YACs from Xq28 further characterized this abnormality as a 2.25-3.25-Mb inverted duplication. No abnormality of Xq28 was detected by G-banding or FISH in the other two boys. These data support the linkage assignment of BPNH to band Xq28 and narrow the critical region to the distal 2.25-3.25 Mb of Xq28.

PubMed Link

http://www.ncbi.nlm.nih.gov/pubmed/9311743?dopt=Abstract

Alternate JournalAm. J. Hum. Genet.