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Article

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.

Human genetics - 1 Dec 1996

Riva P, Castorina P, Manoukian S, Dalprà L, Doneda L, Marini G, den Dunnen J, Larizza L

Abstract excerpt

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 dete...

Topics

Adult
Alleles
Child
Chromosome Mapping
Chromosomes, Human, Pair 17
Female
Gene Deletion
Genes, Neurofibromatosis 1
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurofibromatosis 1

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 8931693
DOI: 10.1007/s004390050277

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8931693-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.PMID 8931693Read ↗

Progress toward the isolation and characterization of the genes causing neurofibromatosis.Semantic proximity Read ↗

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.Semantic proximity Read ↗

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Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.Semantic proximity Read ↗

The hunt for the neurofibromatosis gene.Semantic proximity Read ↗

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.Semantic proximity Read ↗

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Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.Semantic proximity Read ↗

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGHSemantic proximity Read ↗

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Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouseSemantic proximity Read ↗

Mental retardation and cardiovascular malformations in <i>NF1 </i>microdeleted patients point to candidate genes in 17q11.2Semantic proximity Read ↗

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