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a Institute of Human
Genetics, Technical University of Aachen, Pauwelsstrasse 30, D-52074
Aachen, Germany, b Department of
Neonatology, University of Greifswald, Germany, c Section of Pediatric
Endocrinology, Children's Hospital, University of Tübingen, Germany
Correspondence to: Dr T Eggermann, teggermann{at}post.klinikum.rwth-aachen.de
Revised version received 15 August 2000;
Accepted for publication 21
November 2000
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 the growth retarded newborn
showed some additional clinical signs in common with the putative
"maternal UPD(14) syndrome". The maternal UPD(20) patient showed
minor features. However, since it is only the second maternal UPD(20)
case it is too early to delineate a specific syndrome and the role of
this constitution in growth remains to be investigated. Our data
suggest that searching for UPD in growth retarded patients is a helpful
approach to getting more information on the role of UPD in growth
retardation. Based on our results, general considerations and
indications for UPD testing are discussed.
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