Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.

@article{Chen2015PrenatalDA,
  title={Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.},
  author={Chih-ping Chen and Ming-Huei Lin and Yi-Yung Chen and Schu Rern Chern and Yen Ni Chen and Peih-Shan Wu and C W Pan and Meng‐Shan Lee and Wayseen Wang},
  journal={Taiwanese journal of obstetrics \& gynecology},
  year={2015},
  volume={54 5},
  pages={
          592-6
        }
}
OBJECTIVE The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4). MATERIALS AND METHODS A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Conventional cytogenetic analysis of amniocentesis revealed an interstitial deletion of chromosome 8q or del(8)(q23.3q24.13). Level II prenatal ultrasound examination revealed craniofacial dysmorphism. The pregnancy… Expand
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