ArticleAmerican journal of human genetics1992
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.Molecular genetics & genomic medicine · 2025Article
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Article
- Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.Genome medicine · 2019Article
- Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.European journal of human genetics : EJHG · 2015Article
- Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.Human molecular genetics · 2011Article
- Article
- Growth parameters in maternal uniparental disomy 7 and 14.European journal of pediatrics · 2007Article
- Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.Human genetics · 2007Article
- Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.Molecular vision · 2007Article
- Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2005Article
- Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.Human genetics · 2004Review
- The cone dysfunction syndromes.The British journal of ophthalmology · 2004Review
- Current status of human chromosome 14.Journal of medical genetics · 2002Review
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Journal of medical genetics · 1998Article
- De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.Journal of medical genetics · 1998Article
- New aspects of an old theme: the genetic basis of human color vision.American journal of human genetics · 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
- Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location. The disorder is characterized by total absence of color discrimination because retinal cone photoreceptors do not develop; systemic features do not occur. A 20-year-old white female with rod monochromacy presented with short stature (less than 5th percentile), mild developmental delay, premature puberty, small hands and feet (length less than 5th percentile), minimal dysmorphism, and a reproductive history of three consecutive first-trimester miscarriages. Cytogenetic analysis showed 45,XX,rob(14;14) in all 30 cells examined. Southern analysis of DNA from the patient and her phenotypically normal mother and two brothers (her father is deceased) ascertained the parental origin of the 14;14 Robertsonian translocation. Analysis of RFLPs associated with nine VNTR probes and two dinucleotide repeat polymorphisms from chromosome 14 demonstrated that the patient had inherited two copies of a single allele, each of which was maternally derived. A fully informative RFLP analysis of three probes from chromosome 14 enabled reconstruction of the paternal haplotype and showed the lack of any paternal contribution to the subject. These data are consistent with maternal isodisomy for all portions of chromosome 14 tested by these markers. This finding suggests that rod monochromacy maps to chromosome 14, and it emphasizes the importance of uniparental isodisomy to provide a putative chromosomal assignment of a gene for a rare autosomal recessive disorder.
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