DISCORDANT MONOZYGOTIC TWINS WITH THE SCHIMMELPENNING-FEUERSTEIN-MIMSSYNDROME

Authors
SCHWORM HD JEDELE KB HOLINSKI E HORTNAGEL K RUDOLPH G BOERGEN KP KAMPIK A MEITINGER T
Citation
Hd. Schworm et al., DISCORDANT MONOZYGOTIC TWINS WITH THE SCHIMMELPENNING-FEUERSTEIN-MIMSSYNDROME, Clinical genetics, 50(5), 1996, pp. 393-397
Citations number
34
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
50
Issue
5
Year of publication
1996
Pages
393 - 397
Database
ISI
SICI code
0009-9163(1996)50:5<393:DMTWTS>2.0.ZU;2-8
Abstract
The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by L inear nevus sebaceous and ocular and neurologic abnormalities, is a sp oradic condition without known familial cases or etiology. We report t he occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causative mechanisms, we suggest tha t a postzygotic dominant lethal mutation in mosaic form may best expla in SFM and the discordancy for SFM in these MZ twins.