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.

  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},
  volume={54 5},
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
Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication.
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Síndrome de Langer-Giedion con deleción 8q23.1-q24.12, diagnosticado por hibridación genómica comparativa
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Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation
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Trichorhinophalangeal syndrome type II presenting with short stature in a child.
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Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network
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  • Medicine
  • PLoS genetics
  • 2021
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A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
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Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.
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Third case of 8q23.3‐q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion
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An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.
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Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]
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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
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Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.
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