ArticleAmerican journal of human genetics1994
Molecular characterization of de novo secondary trisomy 13.
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 30 papers.
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Who cites it
30 citing papers in PubMed, 102 citations in OpenAlex.
- The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse.Animals : an open access journal from MDPI · 2022Article
- Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2014Article
- Heterogeneity of 11q13 region rearrangements in laryngeal squamous cell carcinoma analyzed by microarray platforms and fluorescence in situ hybridization.Molecular biology reports · 2013Article
- Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.European journal of human genetics : EJHG · 2012Article
- Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.American journal of medical genetics. Part A · 2011Article
- Contactin 4 as an autism susceptibility locus.Autism research : official journal of the International Society for Autism Research · 2011Article
- Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.American journal of medical genetics. Part A · 2010Article
- Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.European journal of human genetics : EJHG · 2010Article
- Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.Human genetics · 2010Article
- Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.American journal of human genetics · 2010Article
- Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.Journal of neurodevelopmental disorders · 2010Article
- Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.American journal of medical genetics. Part A · 2009Article
- Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.PloS one · 2009Article
- Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.Human genetics · 2009Article
- Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.Human molecular genetics · 2009Article
- Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.Investigative ophthalmology & visual science · 2009Article
- Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.Molecular cytogenetics · 2009Article
- Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.American journal of medical genetics. Part A · 2008Article
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.Molecular cytogenetics · 2008Article
- Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.BMC genomics · 2008Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In this study, four cases of de novo secondary trisomy 13 are presented. FISH using alpha-satellite sequences, rDNA, and a pTRI-6 satellite I sequence specific to the short arm of chromosome 13 showed all four rearrangements to be dicentric and apparently devoid of ribosomal genes. Three of four rearrangements retained the pTRI-6 satellite I sequence. Case 1 was the exception, showing a deletion of this sequence in the rearrangement, although both parental chromosomes 13 had strong positive hybridization signals. Eleven microsatellite markers from chromosome 13 were also used to characterize the rearrangements. Of the four possible outcomes, one maternal Robertsonian translocation, two paternal isochromosomes, and one maternal isochromosome were observed. A double recombination was observed in the maternally derived rob(13q13q). No recombination events were detected in any isochromosome. The parental origins and molecular chromosomal structure of these cases are compared with previous studies of de novo acrocentric rearrangements.
Indexed as
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7977360PMC1918319W1594803476What 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.