Article
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
Journal of medical genetics - 1 Feb 1996
Upadhyaya M, Roberts S H, Maynard J, Sorour E, Thompson P W, Vaughan M, Wilkie A O, Hughes H E
Abstract excerpt
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 marke...
Topics
- Cells, Cultured
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 17
- Genes, Neurofibromatosis 1
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Intellectual Disability
- Male
- Microsatellite Repeats
- Neurofibromatosis 1
- Phenotype