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Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH).

Abstract
Trisomy 12p syndrome is a rare chromosomal abnormality, which presents with facial dysmorphism, moderate to severe psychomotor retardation and generalized hypotonia. Here we present the prenatal sonographic findings investigated of a fetus in prenatal diagnosis with a de novo trisomy of 12p identified by array-comparative genomic hybridization (aCGH).
AuthorsChia-Cheng Hung, Chia-Hui Lin, Shin-Yu Lin, Jin-Chung Shin, Chien-Nan Lee, Yi-Ning Su
JournalGene (Gene) Vol. 495 Issue 2 Pg. 178-82 (Mar 10 2012) ISSN: 1879-0038 [Electronic] Netherlands
PMID22248625 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2011 Elsevier B.V. All rights reserved.
Topics
  • Abnormalities, Multiple (diagnostic imaging)
  • Adult
  • Chromosomes, Human, Pair 12
  • Comparative Genomic Hybridization
  • Female
  • Fetal Death (genetics)
  • Humans
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Trisomy (diagnosis, genetics)
  • Ultrasonography, Prenatal

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