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

James M. Fink, William B. Dobyns, Renzo Guerrini, Betsy A. Hirsch

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)379-387
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number2
Publication statusPublished - Aug 1997

ASJC Scopus subject areas

  • Genetics


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