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Article

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

American journal of medical genetics - 11 Dec 1996

Juyal R C, Kuwano A, Kondo I, Zara F, Baldini A, Patel P I

Abstract excerpt

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cytogenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybridization (FISH) has been previously used to rule out apparent mosaicism for del(17)(p11.2p11.2) indicated by routine...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 17

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Source

Identifiers

PMID: 8958329
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O

Genes

SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.PMID 8958329Read ↗

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.Semantic proximity Read ↗

A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.Semantic proximity Read ↗

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.Semantic proximity Read ↗

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).Semantic proximity Read ↗

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)Semantic proximity Read ↗

[Smith-Magenis syndrome: case report and review].Semantic proximity Read ↗

Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.Semantic proximity Read ↗

Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.Semantic proximity Read ↗

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].Semantic proximity Read ↗

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.Semantic proximity Read ↗

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.Semantic proximity Read ↗

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Semantic proximity Read ↗

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