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. 2007 May 15;143A(10):1108-13.
doi: 10.1002/ajmg.a.31709.

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

Olaya Villa  1 , Miguel Del Campo, Marta Salido, Blanca Gener, Laura Astier, Jesús Del Valle, Fátima Gallastegui, Luis A Pérez-Jurado, Francesc Solé
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Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

Olaya Villa et al. Am J Med Genet A. .

Abstract

We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain approximately 16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.

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