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

Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.

Clinical dysmorphology - 1 Apr 2017

Moirangthem Amita, Tuteja Bhatia Moni, Srivastava Priyanka, Mandal Kausik, Rai Archana, Phadke Shubha R

Abstract excerpt

The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is characterized by hypotonia, developmental delay, spasticity, seizures, and recurrent infections. It is fully penetrant in males and the females can have varied manifestations because of skewed X-inactivation. The size of the duplication can range from 0.2 Mb to over 100 Mb. Around 150 cases have been reported in the literature so far. Here,...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Infant

Share to Methyl-CpG-Binding Protein 2

Share to Phenotype

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 28257338
DOI: 10.1097/MCD.0000000000000171

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.PMID 28257338Read ↗

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.Semantic proximity Read ↗

Genetic analysis of a pedigree with MECP2 duplication syndrome in ChinaSemantic proximity Read ↗

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Semantic proximity Read ↗

MECP2-Related Disorders in Males.Semantic proximity Read ↗

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.Semantic proximity Read ↗

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.Semantic proximity Read ↗

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case reportSemantic proximity Read ↗

Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysisSemantic proximity Read ↗

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysisSemantic 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 ↗

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.Semantic proximity Read ↗

Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.Semantic proximity Read ↗

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