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Article

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

The Journal of pediatrics - 1 Jun 1999

Fokstuen S, Ginsburg C, Zachmann M, Schinzel A

Abstract excerpt

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...

Topics

Adult
Aneuploidy
Chromosomes, Human, Pair 14
Female
Fetal Growth Retardation
Genetic Counseling
Genomic Imprinting
Genotype
Humans
Karyotyping
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy

Puberty, Precocious

Source

Identifiers

PMID: 10356135
DOI: 10.1016/s0022-3476(99)70282-9

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