## Abstract Trisomy 18 is the secondβmost common autosomal trisomy and represents one third of the chromosomal trisomies identified prenatally. We present a case of a fetus with trisomy 18 in which thoracoabdominal ectopia cordis was detected prenatally; it was noted as a dominant defect on a sonog
Trisomy 18 associated with ectopia cordis and occipital meningocele
β Scribed by Bick, David ;Markowitz, Richard I. ;Horwich, Arthur ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 362 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
A premature infant presented with ectopia cordis, occipital meningocele, and manifestations of trisomy 18; cytogenetic analysis confirmed a 47,XX,+ 18 chromosome constitution. While mmt cases of ectopia cordis appear as isolated, sporadic defects, careful evaluation is warranted to detect evidence of an associateΓΊ chromosome abnormality.
π SIMILAR VOLUMES
## Abstract Ectopia cordis and mosaic trisomy 16 are two rare fetal anomalies, which have not been reported in association. We report a case of an isolated ectopia cordis at 11^+3^ weeks. Subsequent embryological examination confirmed thoracic ectopia cordis with normal heart structure and array co
## Abstract Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13βyearβold boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridizat