Publication: Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
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Fokstuen, S., Ginsburg, C., Zachmann, M., & Schinzel, A. (1999). Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. Journal of Pediatrics, 134, 689–695. https://doi.org/10.1016/s0022-3476(99)70282-9
Abstract
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Abstract
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 pa
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- Fokstuen, Siv
- Ginsburg, Claudia
- Zachmann, Milo
- Schinzel, Albert
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Fokstuen, S., Ginsburg, C., Zachmann, M., & Schinzel, A. (1999). Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. Journal of Pediatrics, 134, 689–695. https://doi.org/10.1016/s0022-3476(99)70282-9
