ReviewJournal of medical genetics1995
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
Review in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Genetic variation in placental insufficiency: What have we learned over time?Frontiers in cell and developmental biology · 2022Review
- First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.Iranian journal of pediatrics · 2012Article
- Growth parameters in maternal uniparental disomy 7 and 14.European journal of pediatrics · 2007Article
- Diagnostic proceeding in Silver-Russell syndrome.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2005Article
- Imprinting disorders: non-Mendelian mechanisms affecting growth.Journal of pediatric endocrinology & metabolism : JPEM · 2002Review
- Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Journal of medical genetics · 2001Review
- A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.American journal of human genetics · 2001Article
- An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.Journal of medical genetics · 1999Article
- Confined placental mosaicism and intrauterine fetal growth.Archives of disease in childhood. Fetal and neonatal edition · 1998Review
- Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.American journal of human genetics · 1997Article
- Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.American journal of human genetics · 1997Article
- Maternal uniparental disomy 7 in Silver-Russell syndrome.Journal of medical genetics · 1997Article
- Confined placental mosaicism.Journal of medical genetics · 1996Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation could not be excluded as the cause of the growth failure as in all cases isodisomy rather than heterodisomy for chromosome 7 was present. We report a case of prenatal and postnatal growth retardation associated with a prenatal diagnosis of mosaicism for trisomy 7 confined to the placenta. DNA typing of polymorphic markers on chromosome 7 has established that the zygote originated as a trisomy 7 with two maternal and one paternal chromosomes 7 with subsequent loss of the paternal chromosome resulting in a disomic child with maternal heterodisomy for chromosome 7. The growth failure seen in this child with heterodisomy 7 lends strong support to the hypothesis of imprinted gene(s) on chromosome 7.
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