| Literature DB >> 9219006 |
K Chandler1, C T Schrander-Stumpel, J Engelen, P Theunissen, J P Fryns.
Abstract
We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.Entities:
Mesh:
Year: 1997 PMID: 9219006
Source DB: PubMed Journal: Genet Couns ISSN: 1015-8146