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Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis
Author(s) -
Villa Olaya,
del Campo Miguel,
Salido Marta,
Gener Blanca,
Astier Laura,
del Valle Jesús,
Gallastegui Fátima,
PérezJurado Luis A.,
Solé Francesc
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31709
Subject(s) - craniosynostosis , microcephaly , supernumerary , trisomy , small supernumerary marker chromosome , genetics , biology , marker chromosome , chromosome , karyotype , anatomy , gene
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 ∼16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin. © 2007 Wiley‐Liss, Inc.