ArticleJournal of medical genetics1996
A new deletion of 18q23 with few typical features of the 18q- syndrome.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 18 citations in OpenAlex.
- A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.Molecular genetics & genomic medicine · 2022Article
- Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.Italian journal of pediatrics · 2013Review
- Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.Journal of medical genetics · 1998Article
- Molecular characterization of patients with 18q23 deletions.American journal of human genetics · 1997Article
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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
We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other clinical features associated with the 18q- syndrome. Fluorescent in situ hybridisation and microsatellite marker and RFLP analysis were performed to characterise the extent of the deletion, and a terminal deletion of 18q23 was confirmed. The deleted region includes the gene for myelin basic protein, suggesting that hemizygosity of this gene does not invariably lead to mental and developmental delay. The clinical presentation of this patient suggests that either she is not deleted for the genes involved in the 18q- clinical phenotype or this patient represents one end of the spectrum of the clinical variability seen with 18q terminal deletions.
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