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).
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Authors | Chia-Cheng Hung, Chia-Hui Lin, Shin-Yu Lin, Jin-Chung Shin, Chien-Nan Lee, Yi-Ning Su |
Journal | Gene
(Gene)
Vol. 495
Issue 2
Pg. 178-82
(Mar 10 2012)
ISSN: 1879-0038 [Electronic] Netherlands |
PMID | 22248625
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 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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