𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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


Prenatal diagnosis of partial trisomy 4q
✍ Erwin Petek; Klaus Wagner; Horst Steiner; Heinz Schaffer; Peter M. Kroisel 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB 👁 2 views

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-).

PRENATAL AND POSTNATAL INVESTIGATION OF
✍ S. L. VAN ZELDEREN-BHOLA; E. J. BRESLAU-SIDERIUS; G. C. BEVERSTOCK; I. STOLTE-DI 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 415 KB 👁 3 views

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