A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. Issue 2 (February 1996)

• Record Type: Journal Article
• Authors: Upadhyaya, M; Roberts, S H; Maynard, J; Sorour, E; Thompson, P W; Vaughan, M; Wilkie, A O; Hughes, H E
• Is Part Of: Journal of medical genetics. Volume 33:Issue 2(1996)
• Page Start: 148
• Page End: 152
• Publication Date: 1996-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.2.148
• Languages: English
• ISSNs: 1468-6244

Abstract

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.