| Literature DB >> 17431916 |
Olaya Villa1, Miguel Del Campo, Marta Salido, Blanca Gener, Laura Astier, Jesús Del Valle, Fátima Gallastegui, Luis A Pérez-Jurado, Francesc Solé.
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.Entities:
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Year: 2007 PMID： 17431916 DOI： 10.1002/ajmg.a.31709
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802