Exomphalos and trisomy 18 syndrome
✍ Scribed by Jan Žižka; Petr Balíček; Eva Pokorná; Kateřina Dostalíková; Marie Koďousková
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 420 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
A large exomphalose was found in two infants with a clinically and cytogenetically typical picture of trisomy 18 syndrome. In addition one infant was a case of male pseudohermaphroditism.
📜 SIMILAR VOLUMES
Ultrasonography at 23 weeks of gestation documented the presence of megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic ¯uid volume. After pregnancy termination, an autopsy was performed. The external phenotype was diagnostic of the trisomy 18 syndrome con®rm
Six patients with Edwards' syndrome were studied. One child (case 2) was found to have a structural anomaly of a B chromosome as well as an extra chromosome of pail" No. 18: ~7,X~(,18+,inv.(Bp+q--). Case 3 showed additional malformations not commonly present in Edward's syndrome. Case 4 was a twin;