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


Fokstuen, Siv; Ginsburg, Claudia; Zachmann, Milo; Schinzel, Albert (1999). Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. Journal of Pediatrics, 134(6):689-695.

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 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.

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 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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Uncontrolled Keywords:Pediatrics, Perinatology and Child Health, Uniparental disomy, Karyotyping
Language:English
Date:1 June 1999
Deposited On:22 Jun 2023 17:20
Last Modified:29 Apr 2024 01:38
Publisher:Elsevier
ISSN:0022-3476
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/s0022-3476(99)70282-9
PubMed ID:10356135