A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.

Abstract

Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the… (More)
DOI: 10.1002/ajmg.a.33839

Topics

Cite this paper

@article{Aypar2011AGW, title={A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.}, author={Ebru Aypar and Mahmut Yildirim and Ahmet Sert and Ilihan Ciftci and Dursun Odabaş}, journal={American journal of medical genetics. Part A}, year={2011}, volume={155A 3}, pages={638-41} }