Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty☆,☆☆,★
Section snippets
Patient Report
The proposita, a 25-year-old woman, was referred for genetic counseling because of short stature and early onset of puberty. She is the sixth child of healthy unrelated Swiss parents. The mother was 37 and the father 43 years old at delivery. Pregnancy was complicated by oligohydramnios. She was born at term with a birth weight of 1960 g (<10th percentile), length of 47 cm (<10th percentile), and head circumference of 31.5 cm (<10th percentile). Because of poor sucking, she needed nasogastric
RESULTS
Chromosome analysis revealed a normal female karyotype. Molecular studies showed that the proband inherited 2 chromosomes 14 from her mother and none from her father, a result consistent with maternal UPD14. Seven markers revealed maternal heterodisomy, whereas reduction to homozygosity was shown on 3 markers. These results suggest several recombination events on the maternal chromosomes 14 during meiosis I (Table I). Fig 1 gives representative examples for markers showing maternal heterodisomy
DISCUSSION
Tables II and III summarize the cytogenetic and clinical findings of the 16 (including our proband) reported liveborn patients with proven matUPD14.Cases published as abstracts11, 16, 17, 18, 19, 22 often lack detailed clinical information. The interpretation of matUPD14 in 1 report14 must be questioned. The father was not available for analysis, and matUPD14 was suggested on only 2 markers. The absence of a paternal control and homozygosity for only 2 markers do not allow the diagnosis of
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2019, Forensic Science International: Genetics Supplement SeriesCitation Excerpt :Several abnormal conditions in chromosome rearrangement may result in uniparental isodisomy, while structural or numerical aberrations of chromosomes at meiosis and post-zygotic stage might lead to uniparental heterodisomy [4]. UPD might result in clinical symptoms due to the expressions of recessive genes [5], or changes in genomic imprinting [6]. However, a person might also have totally normal phenotype with UPD [7].
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2006, Comparative Biochemistry and Physiology - B Biochemistry and Molecular BiologyMaternal uniparental disomy chromosome 14: Case report and literature review
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Supported by Swiss National Foundation Grant 32-42088.94.
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Reprint requests: Albert Schinzel, MD, Institut für Medizinische Genetik, Rämistrasse 74, 8001 Zürich, Switzerland.
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0022-3476/99/$8.00 + 0 9/21/97903