ArticleAmerican journal of human genetics1994
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Review
- Case report: Paternal uniparental disomy on chromosome 7 and homozygousFrontiers in genetics · 2023Article
- Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.Cold Spring Harbor molecular case studies · 2021Article
- Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.Scientific reports · 2017Article
- New developments in Silver-Russell syndrome and implications for clinical practice.Epigenomics · 2016Review
- Genome-wide methylation analysis in Silver-Russell syndrome patients.Human genetics · 2015Article
- Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.Journal of clinical medicine · 2014Review
- Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Epigenetics · 2014Article
- Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea.The American journal of case reports · 2012Article
- Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.American journal of human genetics · 2006Article
- The ratio of maternal to paternal UPD associated with recessive diseases.Human genetics · 2005Article
- Grb10 and Grb14: enigmatic regulators of insulin action--and more?The Biochemical journal · 2005Review
- Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.Human genetics · 2004Review
- The genetics of the Silver-Russell syndrome.Reviews in endocrine & metabolic disorders · 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
- Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.American journal of human genetics · 1998Article
- 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
- Williams syndrome starts making sense.American journal of human genetics · 1996Review
- Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. Alternatively, although less likely, all these patients may be homozygous for a rare recessive mutation. Here we report both paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea. She had inherited only paternal alleles at 10 loci and was homozygous for another 10 chromosome 7 loci studied. Her physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.
Indexed as
Identifiers
7942853PMC1918292What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.