ArticleAmerican journal of human genetics1996
Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed.
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants inGlobal medical genetics · 2024Review
- Article
- First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.Molecular genetics & genomic medicine · 2020Article
- Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.Acta dermato-venereologica · 2020Article
- Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.International journal of obesity (2005) · 2016Article
- Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.Clinical genetics · 2013Review
- Centric fission--simple and complex mechanisms.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Review
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.American journal of human genetics · 2002Article
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?Journal of medical genetics · 1998Article
- Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.Journal of medical 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
- Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?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
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2.
Indexed as
Identifiers
8900241PMC1914849What 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.