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. 1996 Feb;33(2):148–152. doi: 10.1136/jmg.33.2.148

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

M Upadhyaya 1, S H Roberts 1, J Maynard 1, E Sorour 1, P W Thompson 1, M Vaughan 1, A O Wilkie 1, H E Hughes 1
PMCID: PMC1051842  PMID: 8929953

Abstract

We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties.

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Selected References

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