Journal article
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
Abstract
The association of uniparental disomy (UPD) and short stature has been reported for different chromosomes and in several conditions. Therefore, we investigated a cohort of 21 patients referred because of intrauterine and postnatal growth retardation for UPD of chromosomes 2, 7, 9, 14, 16, and 20. Typing of short tandem repeats showed maternal UPD(14) and maternal UPD(20) in two cases. In the first case, an interstitial UPD(14) was detected and …
Authors
Eggermann T; Mergenthaler S; Eggermann K; Albers A; Linnemann K; Fusch C; Ranke MB; Wollmann HA
Journal
Journal of Medical Genetics, Vol. 38, No. 2, pp. 86–89
Publisher
BMJ
Publication Date
February 1, 2001
DOI
10.1136/jmg.38.2.86
ISSN
0022-2593