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

16p11.2 Duplication Syndrome - a Case Report.

Folia medica - 28 Feb 2021

Levkova Mariya, Stoyanova Milena, Staneva Rada, Hachmeriyan Mari, Angelova Lyudmila

Abstract excerpt

16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to Chromosomes, Human, Pair 16
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to Intellectual Disability

Share to Molecular Diagnostic Techniques

Share to Pedigree

Share to Syndrome

Source

Identifiers

PMID: 33650406
DOI: 10.3897/folmed.63.e52763

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

16p11.2 Duplication Syndrome - a Case Report.PMID 33650406Read ↗

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.Semantic proximity Read ↗

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.Semantic proximity Read ↗

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.Semantic proximity Read ↗

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.Semantic proximity Read ↗

[16p11.2 Microdeletion: first report in Argentina].Semantic proximity Read ↗

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Semantic proximity Read ↗

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.Semantic proximity Read ↗

Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.Semantic proximity Read ↗

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.Semantic proximity Read ↗

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.Semantic proximity Read ↗

Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.Semantic proximity Read ↗

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.Semantic proximity Read ↗

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