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

Association of Syndromic Mental Retardation and Autism with 22q11.2 Duplication

1 Aug 2009

Abstract excerpt

We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is very heterogeneous, with high variability also in the familiar cases. Up till now, about 50...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Tracheal and airway disorders

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20020400
DOI: 10.1055/s-0029-1237724

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of Syndromic Mental Retardation and Autism with 22q11.2 DuplicationPMID 20020400Read ↗

Autistic disorder and 22q11.2 duplication.Semantic proximity Read ↗

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.Semantic proximity Read ↗

[Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders].Semantic proximity Read ↗

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.Semantic proximity Read ↗

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.Semantic proximity Read ↗

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.Semantic proximity Read ↗

[22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis].Semantic proximity Read ↗

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.Semantic proximity Read ↗

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.Semantic proximity Read ↗

Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.Semantic proximity Read ↗

16p11.2 Duplication Syndrome - a Case Report.Semantic proximity Read ↗

[22q11.2 microdeletion].Semantic proximity Read ↗

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