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

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

Journal of human genetics - 1 Jan 2004

Bhalla Kavita, Phillips Hilary A, Crawford Joanna, McKenzie Olivia L D, Mulley John C, Eyre Helen, Gardner Alison E, Kremmidiotis Gabriel, Callen David F

Abstract excerpt

The 16p13.3 breakpoints of two de novo translocations of chromosome 16, t(1;16) and t(14;16), were shown by initial mapping studies to have physically adjacent breakpoints. The translocations were ascertained in patients with abnormal phenotypes characterized by predominant epilepsy in one patient and mental retardation in the other. Distamycin/DAPI banding showed that the chromosome 1 breakpoint of the t(1;16)...

Read the complete abstract on PubMed

Topics

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

Share to Ataxins
Share to Chromosomes, Human, Pair 16

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

Share to Epilepsy

Share to Intellectual Disability

Share to Physical Chromosome Mapping

Share to RNA-Binding Proteins

Share to RNA Splicing Factors

Share to Translocation, Genetic

Source

Identifiers

PMID: 15148587
DOI: 10.1007/s10038-004-0145-4

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

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.PMID 15148587Read ↗

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.Semantic proximity Read ↗

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.Semantic proximity Read ↗

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.Semantic proximity Read ↗

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotypeSemantic proximity Read ↗

A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.Semantic proximity Read ↗

Novel transcribed sequences neighbouring a translocation breakpoint associated with schizophrenia.Semantic proximity Read ↗

De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.Semantic proximity Read ↗

Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)Semantic proximity Read ↗

A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.Semantic proximity Read ↗

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.Semantic proximity Read ↗

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.Semantic proximity Read ↗

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).Semantic proximity Read ↗

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