Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis |
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| Authors: | Villa Olaya Del Campo Miguel Salido Marta Gener Blanca Astier Laura Del Valle Jesús Gallastegui Fátima Pérez-Jurado Luis A Solé Francesc |
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| Affiliation: | Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain. |
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| 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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