ArticleEuropean journal of pediatrics2003
A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.
Article in European journal of pediatrics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Chromosome abnormalities and the genetics of congenital corneal opacification.Molecular vision · 2011Pooled it
- Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?Journal of pediatric genetics · 2021Article
- A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome.Molecular syndromology · 2016Article
- Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.Investigative ophthalmology & visual science · 2011Article
- Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.European journal of human genetics : EJHG · 2009Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledInterstitial deletions of the long arm of chromosome 4 involving the region 4q25-q27 are rare. Clinical features of patients carrying such a deletion include craniofacial and skeletal anomalies, malformations of the eye, cardiac abnormalities, congenital hypotonia, and developmental retardation. Here we report a new case of a de novo interstitial deletion 4(q25q27) in a girl with congenital malformations and findings of Rieger syndrome. The abnormal chromosome 4 was characterised by G-banding and molecular cytogenetic methods including comparative genomic hybridisation and two-colour fluorescent in situ hybridisation with band-specific probes.
conclusionthis report highlights the importance of high quality banding and fluorescent in situ hybridisation analyses to screen for subtle chromosome 4q25-q27 aberrations in patients with clinical features of Rieger syndrome.
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