A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
1996; BMJ; Volume: 33; Issue: 2 Linguagem: Inglês
10.1136/jmg.33.2.148
ISSN1468-6244
AutoresMeena Upadhyaya, Susan Roberts, Julie Maynard, E Sorour, Patrick Thompson, Merle Vaughan, Andrew O.M. Wilkie, Helen E. Hughes,
Tópico(s)Meningioma and schwannoma management
ResumoWe 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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