PT  - JOURNAL ARTICLE
AU  - Upadhyaya, M
AU  - Roberts, S H
AU  - Maynard, J
AU  - Sorour, E
AU  - Thompson, P W
AU  - Vaughan, M
AU  - Wilkie, A O
AU  - Hughes, H E
TI  - A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
AID  - 10.1136/jmg.33.2.148
DP  - 1996 Feb 01
TA  - Journal of Medical Genetics
PG  - 148--152
VI  - 33
IP  - 2
4099  - http://jmg.bmj.com/content/33/2/148.short
4100  - http://jmg.bmj.com/content/33/2/148.full
SO  - J Med Genet1996 Feb 01; 33
AB  - 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.