A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
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.
Upadhyaya
M
M
Institute of Medical Genetics, University Hospital of Wales Cardiff, UK.
Roberts
S H
SH
Maynard
J
J
Sorour
E
E
Thompson
P W
PW
Vaughan
M
M
Wilkie
A O
AO
Hughes
H E
HE
D002478:Cells, Cultured; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics* / Q000648:ultrastructure; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010641:Phenotype