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J Pediatr. 1999 Jun;134(6):689-95.

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty.

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Institut für Medizinische Genetik der Universität Zürich, and Abteilung für pädiatrische Endokrinologie, Universitäts-Kinderklinik Zürich, Zurich, Switzerland.


Uniparental disomy for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans either as a result of imprinted genes or, in the case of isodisomy, homozygosity of mutated recessive alleles. We report on the occurrence of maternal uniparental disomy for chromosome 14 (matUPD 14) in a 25-year-old woman with a normal karyotype, normal intelligence but low birth weight, short stature, small hands, and early onset of puberty. Comparison of her phenotype with those of 15 previously described liveborn patients with matUPD14 gives further evidence for an imprinted gene region on chromosome 14 and highlights the necessity to consider this cause in children with intrauterine growth retardation and early onset of puberty caused by acceleration of skeletal maturation.

[Indexed for MEDLINE]

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