ArticleJournal of medical genetics1998
Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
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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.
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Who cites it
6 citing papers in PubMed, 57 citations in OpenAlex.
- Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family.Molecular cytogenetics · 2022Article
- Adult neuropsychiatric expression and familial segregation of 2q13 duplications.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2014Article
- Chromosome duplication (14q) and the genotype phenotype correlation.International journal of fertility & sterility · 2014Article
- Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia.Neurotoxicity research · 2008Review
- Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.Journal of medical genetics · 2005Review
- Chromosomal abnormalities and mental illness.Molecular psychiatry · 2003Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.
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Registered trials
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