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 novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.

Journal of genetics - 1 Apr 2014

Cao Qinying, Peng Yuanyuan, Ge Jun, Zhang Yanhua, Zhu Junzhen, Zhao Lijuan

Abstract excerpt

No abstract is available from the source.

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 Chromosome Duplication
Share to Chromosomes, Human, Pair 4
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Karyotype

Share to Karyotyping

Share to Language Development Disorders

Source

Identifiers

PMID: 24840832
DOI: 10.1007/s12041-014-0318-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.PMID 24840832Read ↗

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.Semantic proximity Read ↗

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.Semantic proximity Read ↗

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.Semantic proximity Read ↗

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.Semantic proximity Read ↗

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.Semantic proximity Read ↗

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.Semantic proximity Read ↗

Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features.Semantic proximity Read ↗

A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.Semantic proximity Read ↗

Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.Semantic proximity Read ↗

190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.Semantic proximity Read ↗

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.Semantic proximity Read ↗

Identification of an interstitial deletion in an adult female with schizophrenia, mental retardation, and dysmorphic features: further support for a putative schizophrenia-susceptibility locus at 5q21-23.1.Semantic proximity Read ↗

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