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

Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?

European journal of medical genetics - 1 Apr 2023

Blum Katalin Lml, Krumbiegel Mandy, Kraus Cornelia, Reis André, Hüffmeier Ulrike

Abstract excerpt

We report on a female individual with feeding difficulties, constipation, poor overall growth, periventricular lesions resembling gliosis in brain MRI, recurrent otitis media with palsy of facial nerve, distinct facial features, and pronounced delay in speech development. The latter was the most prominent feature. Molecular karyotyping revealed a heterozygous de novo deletion of 4.353 Mb at chromosome...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Deletion
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Karyotyping

Share to Neoplasm Proteins

Share to Phenotype

Share to Speech

Source

Identifiers

PMID: 36746366
DOI: 10.1016/j.ejmg.2023.104717

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

Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?PMID 36746366Read ↗

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

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.Semantic proximity Read ↗

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.Semantic proximity Read ↗

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.Semantic proximity Read ↗

BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.Semantic proximity Read ↗

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.Semantic proximity Read ↗

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.Semantic proximity Read ↗

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomaliesSemantic proximity Read ↗

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

Clinical spectrum of individuals with de novo EBF3 variants or deletions.Semantic proximity Read ↗

Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.Semantic proximity Read ↗

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).Semantic proximity Read ↗

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