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

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 148-152

  Upadhyaya, M ^a   Roberts, S H ^a   Maynard, J ^a   Sorour, E ^a   Thompson, P W ^a   Vaughan, M ^a   Wilkie, A O M ^b   Hughes, H E ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Deletion (17)(q11.2q21.1); Neurofibromatosis type 1

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME DELETION; CYTOGENETICS; FACE DYSMORPHIA; GENETIC ANALYSIS; GROWTH RETARDATION; HEMIZYGOSITY; HUMAN; HUMAN CELL; MALE; NEUROFIBROMATOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

CELLS, CULTURED; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; GENES, NEUROFIBROMATOSIS 1; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; NEUROFIBROMATOSIS 1; PHENOTYPE;

EID: 0030063783     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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