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 microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence.

European journal of medical genetics - 1 Feb 2014

Valdes-Miranda Juan Manuel, Soto-Alvarez Jose Ramon, Toral-Lopez Jaime, González-Huerta Luz, Perez-Cabrera Adrian, Gonzalez-Monfil Georgina, Messina-Bass Olga, Cuevas-Covarrubias Sergio

Abstract excerpt

Microdeletions of the long arm of chromosome 13 lead to a characteristic facial appearance with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with respect to the location and size of the deletion region. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects. In the present study we describe the case of an adult...

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 Banding

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 13

Share to Comparative Genomic Hybridization

Share to Facies

Share to In Situ Hybridization, Fluorescence

Source

Identifiers

PMID: 24503149
DOI: 10.1016/j.ejmg.2014.01.006

Genes

GPC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence.PMID 24503149Read ↗

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.Semantic proximity Read ↗

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.Semantic proximity Read ↗

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.Semantic proximity Read ↗

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.Semantic proximity Read ↗

17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.Semantic proximity Read ↗

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.Semantic proximity Read ↗

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.Semantic proximity Read ↗

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresSemantic proximity Read ↗

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

Clinical features associated with a 15.41 Mb deletion of chromosome 13q encompassing the MIR17HG locus.Semantic proximity Read ↗

Clinical Findings and Genetic Analysis of Patients with Copy Number Variants Involving 17p13.3 By Using a Single Nucleotide Polymorphism Array: A Single-Center ExperienceSemantic proximity Read ↗

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.Semantic proximity Read ↗

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