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Genet Couns. 1997;8(2):91-7.

Partial trisomy 15q: report of a patient and literature review.

Author information

1
Division of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.

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.

PMID:
9219006
[Indexed for MEDLINE]

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