Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2011

Tug E, Cine N, Aydin H

Abstract excerpt

Smith-Magenis syndrome (SMS), which occurs as a result of an interstitial deletion within chromosome 17p11.2-p12, is a disorder that presents itself with minor dysmorphic features, brachydactyly, short stature, hypotonia, delayed speech, cognitive deficits and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behavior. We present a girl with full SMS phenotype....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Counseling
Share to Child Behavior Disorders
Share to Chromosome Banding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 17

Share to Comparative Genomic Hybridization

Share to Self-Injurious Behavior

Share to Smith-Magenis Syndrome

Source

Identifiers

PMID: 21614983

Genes

SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.PMID 21614983Read ↗

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

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.Semantic proximity Read ↗

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

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

[Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome].Semantic proximity Read ↗

A case report of monozygotic twins with Smith-Magenis syndrome.Semantic proximity Read ↗

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.Semantic proximity Read ↗

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.Semantic proximity Read ↗

[Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype].Semantic proximity Read ↗

Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects.Semantic proximity Read ↗

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).Semantic proximity Read ↗

First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.