Pediatrics & Neonatology · 2012 · 16 citations · 21 references
Deletion SyndromeOphthalmologyCytogeneticsGenetic DisorderGeneticsChromosome 10QPathologyDistal 10QDigital AnomaliesMolecular GeneticsMedical GeneticsMedicineChromosome 9Chromosome 22Neurogenetics
Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25-10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.
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Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
William Reardon, Robin M. Winter, Paul Rutland et al. · Nature Genetics · 1994 · 766 citations
Mutations in <i>FGFR1</i> and <i>FGFR2</i> cause familial and sporadic Pfeiffer syndrome
Ute Schell, Andreas Hehr, George Feldman et al. · Human Molecular Genetics · 1995 · 232 citations
Deletions of the long arm of chromosome 10
Steven D. Shapiro, Kathryn L. Hansen, Linda M. Pasztor et al. · American Journal of Medical Genetics · 1985 · 71 citations
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25
Mark E. Nuñes, G. Schutt, Raj P. Kapur et al. · Human Molecular Genetics · 1995 · 71 citations