Craniosynostosis associated with partial duplication of 15q and deletion of 2q.
We report on an infant with multiple congenital anomalies including complex craniosynostosis associated with an unbalanced karyotype, 46,XY,-2,+der(2),t(2;15)(q37;q26)pat. The previous report of a child with cloverleaf skull and partial duplication of 15q25----qter and the Man-on-Mouse Homology map suggests that a critical segment for synostosis of sutures may be in this region.
Van Allen
M I
MI
Department of Medical Genetics, University Hospital-Shaughnessy Site, Vancouver, British Columbia, Canada.
Siegel-Bartelt
J
J
Feigenbaum
A
A
Teshima
I E
IE
D000328:Adult; D002585:Cesarean Section; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002889:Chromosomes, Human, Pair 2; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D014178:Translocation, Genetic