Mosaic tetrasomy 12p
- 23 April 2008
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 28 (6), 495-502
- https://doi.org/10.1111/j.1399-0004.1985.tb00416.x
Abstract
Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler-Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme assays, and we summarize the clinical and biological characteristics of all the cases reported so far under various names.Keywords
This publication has 3 references indexed in Scilit:
- Mosaic tetrasomy 21 in a liveborn male infantClinical Genetics, 1982
- TRISOMY-20 SYNDROME IN MANThe Lancet, 1976
- Trisomie 21 et superoxyde dismutase-1 (IPO-A): Tentative de localisation sur la sous bande 21 q 22.1Experimental Cell Research, 1976