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

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

Molecular genetics & genomic medicine - 1 Jan 2018

Luukkonen Tiia Maria, Mehrjouy Mana M, Pöyhönen Minna, Anttonen Anna-Kaisa, Lahermo Päivi, Ellonen Pekka, Paulin Lars, Tommerup Niels, Palotie Aarno, Varilo Teppo

Abstract excerpt

BACKGROUND: The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a "Systematic Survey of Balanced Chromosomal Rearrangements in Finns." In the first family, carriers (n = 6) manifest with learning problems in childhood, and later with unexplained neurological...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Breakpoints
Share to Chromosomes, Human, Pair 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 12

Share to Finland

Share to Karyotyping

Share to Receptor, Muscarinic M3

Share to Ryanodine Receptor Calcium Release Channel

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 29168350
DOI: 10.1002/mgg3.346
PMCID: PMC5823676

Genes

CHRM3
KCNC2
RYR2
TRHDE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.PMID 29168350Read ↗

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.Semantic proximity Read ↗

Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome.Semantic proximity Read ↗

Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds.Semantic proximity Read ↗

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death.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 ↗

Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.Semantic proximity Read ↗

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1Semantic proximity Read ↗

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).Semantic proximity Read ↗

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR geneSemantic proximity Read ↗

FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.Semantic proximity Read ↗

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.Semantic proximity Read ↗

Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25).Semantic proximity Read ↗

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