trisomy 18


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Related to trisomy 18: trisomy 13

trisomy 18

n.
The condition of having three copies of chromosome 18 that results in a syndrome characterized by severe congenital abnormalities including craniofacial and cardiac defects, intellectual disability, and deformities of the hands and feet. Also called Edwards syndrome.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

trisomy 18

Edwards syndrome A chromosome defect due to duplication of chromosome 18 Clinical Mental retardation, hypotonia, polyhydramnios, FTT, small placenta, low-birth-weight, micrognathia, ASD, VSD, PDA, horseshoe kidney, unilateral or double kidney, double ureter, inguinal or umbilical hernia, nail hypoplasia, cleft lip and palate, deformed skull, low-set malformed ears, short sternum, cryptorchidism Incidence 1:3-11,000 Prognosis Death usually by age 2
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
The latter may be relevant, as placentas of trisomy 18 may show features of fetal thrombotic vasculopathy/decreased fetal blood perfusion including occlusion, recanalization, and calcification of vascular walls [17].
Characteristic multiple minor anomalies of trisomy 18 included prominent occiput, micrognathia, and short sternum.
Receiver operating characteristic (ROC) analysis was performed to determine the specificity and sensitivity of AMELX and AMELY genes as an indicator of male embryos and for TTC3 and RPL17 to analyze Trisomy 21 and Trisomy 18. The area under the curve (AUC) was measured to determine the degree of predictability.
Reduced classification analytical sensitivity of fetal trisomy 18 relative to fetal trisomy 21 may result from intrinsic chromosome 18 assay noise and classification model training for fetal trisomy 18 detection.
Of the 2 cases with no results, 1 was confirmed as trisomy 18 on karyotyping and the second had no karyotype results.
The NPV of cfDNA in this study was 100% (95% confidence interval, 99.8%-100%) for both trisomy 21 and trisomy 18. The positive predictive value (PPV) was higher with cfDNA compared to standard screening (45.5% vs 4.2% for trisomy 21 and 40% vs 8.3% for trisomy 18).
Ectopia cordis in a fetus with trisomy 18. J Clin Ultrasound 2006; 34: 95-8.
The book covers the musculoskeletal system of a 28-week human trisomy 18 cyclopia fetus; the comparative anatomy of muscular anomalies in trisomies 13,18, and 21; cyclopia, trisomic anomalies, and order-versus-chaos in development and evolution; digits and muscles: topology-directed muscle attachment; and evolutionary mechanisms and mouse models for Down syndrome.
The incidence of chromosome abnormalities such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13 increases with maternal age.
In current study we enrolled a 27-year-old pregnant woman for genetic counseling with a suspect of Edward's syndrome (trisomy 18) at her gestation period of 16 weeks, GTG-banded metaphase analysis revealed a karyotype of 69 XXX.
Dad-of-four Shane, 44, said: "We found out Alfie had a condition called mosaic trisomy 18 and would have no quality of life should he survive the birth.
Bella's Gift: How One Little Girl Transformed Our Family and Inspired a Nation tells of the authors' special-needs youngest child, born with a rare genetic condition called Trisomy 18, or Edward's Syndrome.