© 2003 BMJ Publishing Group
LETTER TO JMG
Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy
1 Faculty of Medical and Health Sciences, The University of Auckland, Auckland 1001, New Zealand
2 School of Biological Sciences, University of Auckland, Auckland 1001, New Zealand
3 DNA Diagnostics Ltd, Auckland 1001, New Zealand
Correspondence to:
Correspondence to:
Dr I M Winship, Faculty of Medical and Health Sciences, The University of Auckland, Private Bag 92019, Auckland 1001, New Zealand;
i.winship@auckland.ac.nz
Keywords: isolated hemihypertrophy; Beckwith-Wiedemann syndrome; uniparental disomy; 11p15
| The first 150 words of the full text of this article appear below. |
Hemihypertrophy, or hemihyperplasia, is a condition in which there may be asymmetrical overgrowth of the cranium, face, trunk, and/or limbs on one side of the body.1 There may also be asymmetrical visceromegaly on the ipsilateral or contralateral side.2 Hemihypertrophy may occur in isolation, hence the term "isolated hemihypertrophy (IH)", or as part of a number of overgrowth syndromes in which other characteristic clinical features are present. Such syndromes include neurofibromatosis, Klippel-Trenaunay-Weber syndrome, McCune-Albright syndrome, and Beckwith-Wiedemann syndrome (BWS).1
The incidence of IH is 
1/86 000 live births,3 with a male:female ratio of 1:2.1 The aetiology of IH is unknown. A number of different chromosomal anomalies, including diploid-triploid mosaicism and trisomy 18 mosaicism, have been identified, and the causes of IH are likely to be heterogeneous.2 It has been suggested that IH may be one end of the spectrum of phenotypes of BWS, linked to the chromosomal locus 11p15.1
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