We report on a rare patient screened as a putative carrier of a contiguous gene syndrome on the basis of a complex phenotype characterized by sporadic neurofibromatosis type 1 (NF1), dysmorphism, mental retardation and severe skeletal anomalies. A cytogenetically visible 17q11.2 deletion was detected in the patient's karyotype by high-resolution banding and confirmed by fluorescence in situ hybridization with yeast artificial chromosomes targeting the NF1 region. Analysis of the segregation from parents to proband of 13 polymorphic DNA markers, either contiguous or contained within the NF1 gene, showed that the patient is hemizygous at sites within the NF1 gene - the AAAT-Alu repeat in the 5' region of intron 27b, the CA/GT microsatellite in the 3' region of intron 27b, and the CA/GT microsatellite in intron 38 - and at the extragenic D17S798 locus, distal to the 3' end of NF1. The patient may be an important resource in the identification of genes downstream of NF1 that may contribute to some of his extra-NF1 clinical signs.
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome / P. Riva, P. Castorina, S. Manoukian, L. Dalprà, L. Doneda, G. Marini, J. den Dunnen, L. Larizza. - In: HUMAN GENETICS. - ISSN 0340-6717. - 98:6(1996 Dec), pp. 646-650.
|Titolo:||Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome|
RIVA, PAOLA VANDA (Primo)
LARIZZA, LIDIA (Ultimo)
|Parole Chiave:||Karyotyping; Chromosomes, Human, Pair 17; Humans; In Situ Hybridization, Fluorescence; Child; Chromosome Mapping; Neurofibromatosis 1; Gene Deletion; Alleles; Polymorphism, Restriction Fragment Length; Adult; Female; Genes, Neurofibromatosis 1; Male|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
Settore BIO/13 - Biologia Applicata
|Data di pubblicazione:||dic-1996|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1007/s004390050277|
|Appare nelle tipologie:||01 - Articolo su periodico|