✦ LIBER ✦
Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy
✍ Scribed by Ingrid Witters; Griet van Buggenhout; Philippe Moerman; Jean-Pierre Fryns
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 150 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
✦ Synopsis
We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation.
Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter<q3.53::q3.53-q3.33::q3.53<qter).
Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.