ArticleAmerican journal of human genetics1991
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 168 citations in OpenAlex.
- Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Frontiers in genetics · 2018Review
- Molecular cytogenetic analysis of telomere rearrangements.Current protocols in human genetics · 2015Article
- Genetics and biology of microcephaly and lissencephaly.Seminars in pediatric neurology · 2009Review
- Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.Journal of medical genetics · 2002Article
- Screening chromosome ends for learning disability.BMJ (Clinical research ed.) · 2000Article
- Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.Journal of medical genetics · 2000Review
- Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).American journal of human genetics · 2000Article
- Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.Journal of medical genetics · 1999Article
- Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture.Genetics · 1998Article
- Characterization of reciprocal translocations in pigs using dual-colour chromosome painting and primed in situ DNA labelling.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 1998Article
- A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.Journal of medical genetics · 1998Article
- Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.American journal of human genetics · 1997Article
- Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.American journal of human genetics · 1997Article
- Fluorescence in situ hybridization with cosmid clones for the detection of human cytomegalovirus DNA in peripheral blood leukocytes.Histochemistry and cell biology · 1996Article
- Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.Human genetics · 1996Article
- A human pancreatic islet inwardly rectifying potassium channel: cDNA cloning, determination of the genomic structure and genetic variations in Japanese NIDDM patients.Diabetologia · 1996Article
- The intracellular localization of human cytomegalovirus DNA in peripheral blood leukocytes during active infections by high-resolution fluorescence in situ hybridization.Archives of virology · 1996Article
- Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.Journal of medical genetics · 1995Article
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.Nature genetics · 1995Article
- Genetic factors in lissencephaly syndromes: a review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1993Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Fluorescence in situ hybridization (FISH) using two cosmid probes (41A and P13) from the Miller-Dieker syndrome (MDS) critical region in 17p13.3 was performed in a blinded comparison of three MDS patients with submicroscopic deletions and in four normal relatives used as controls. The controls showed both chromosome 17 homologues labeled in 85%-95% of cells, while each patient showed only one homologue labeled in 75%-80% of cells. Two MDS patients with cryptic translocations were also studied. In one case, a patient and her mother had the same der(17) (p+), but the reciprocal product of the translocation could not be identified in the mother by G-banding (i.e., it was a "half-cryptic" translocation). FISH revealed a 3q;17p translocation. The other case involved a patient with apparently normal karyotype. Because a large molecular deletion was found, a translocation involving two G-negative telomeres (i.e., a "full-cryptic" translocation) was postulated. FISH studies on her father and normal brother showed an 8q;17p translocation. These studies demonstrate that in situ hybridization is an efficient method for deletion detection in Miller-Dieker syndrome. More important, parental studies by FISH on patients demonstrating molecular deletions and a normal karyotype may identify cryptic translocation events, which cannot be detected by other molecular genetic strategies. Similar in situ strategies for deletion detection can be developed for other microdeletion syndromes, such as Prader-Willi/Angelman syndrome or DiGeorge syndrome.
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Registered trials
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