ArticleAmerican journal of human genetics1994
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
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 9 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 46 citations in OpenAlex.
- Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case.Journal of pediatric genetics · 2023Article
- Hereditary Sensory and Autonomic Neuropathy 2B Caused by a NovelFrontiers in genetics · 2019Article
- Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.Metabolic brain disease · 2016Article
- Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Journal of genetic counseling · 2014Review
- Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.Journal of clinical medicine · 2014Review
- Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia.Journal of medical genetics · 2006Article
- The ratio of maternal to paternal UPD associated with recessive diseases.Human genetics · 2005Article
- Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.Human genetics · 2004Review
- Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.American journal of human genetics · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Paternal isodisomy for chromosome 5 was detected in a 2-year-old boy with type III spinal muscular atrophy (SMA), an autosomal recessive degenerative disorder of alpha motor neurons, known to map to 5q11.2-13.3. Examination of 17 short-sequence repeat polymorphisms spanning 5p15.1-15.3 to 5q33.3-qter produced no evidence of maternally inherited alleles. Cytogenetic analysis revealed a normal male karyotype, and FISH with probes closely flanking the SMA locus confirmed the presence of two copies of chromosome 5. No developmental abnormalities, other than those attributable to classical childhood-onset SMA, were present. While the absence of a maternally derived chromosome 5 could have produced the symptoms of SMA through the mechanisms of genomic imprinting, the lack of more global developmental abnormalities would be unusual. Paternal transmission of two copies of a defective gene at the SMA locus seems to be the most likely cause of disease, but proof of this will have to await the identification of the SMA gene. While uniparental isodisomy is a rare event, it must be considered as a possible mechanism involved in SMA when conducting prenatal testing and counseling for this disorder.
Indexed as
Identifiers
8116617PMC1918127W1602300998What 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.