A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling
✍ Scribed by Luk, H.M.; Wong, Vincent C.H.; Lo, Ivan F.M.; Chan, Kelvin Y.K.; Lau, Elizabeth T.; Kan, Anita S.Y.; Tang, Mary H.Y.; Tang, W.F.; She, Wandy M.K.; Chu, Yoyo W.Y.; Sin, W.K.; Chung, Brian H.Y.
- Book ID
- 121480585
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 653 KB
- Volume
- 57
- Category
- Article
- ISSN
- 1769-7212
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We describe the results of prenatal analyses and postnatal ®ndings in a male fetus with a partial trisomy for the long arm and a small terminal monosomy for the short arm of chromosome 4 with the following karyotype: 46,XY,add(4)(p16.3).ish dup(4)(q26qter)(wcp4+,D4S2336x3,AFMb280xa5x2,4ptel-,WHCR-).
We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in