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

Villa Olaya | Zendy; del Campo Miguel | Zendy; Salido Marta | Zendy; Gener Blanca | Zendy; Astier Laura | Zendy; del Valle Jesús | Zendy; Gallastegui Fátima | Zendy; PérezJurado Luis A. | Zendy; Solé Francesc | Zendy

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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.

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