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

Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12

13 Jan 2011

Abstract excerpt

Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the maternal one was 47,XX,-12,+fis(12)(p10),+fis(12) (q10). This is the first report on centric fission of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21271652
DOI: 10.1002/ajmg.a.33811

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

Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12PMID 21271652Read ↗

Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p<sup>,</sup>**Semantic proximity Read ↗

Cytogenetic and molecular analysis in trisomy 12pSemantic proximity Read ↗

Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent.Semantic proximity Read ↗

A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.Semantic proximity Read ↗

Partial trisomy 11q and partial monosomy 12p due to the maternal translocation (11q;12p).Semantic proximity Read ↗

Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 → 13q22 chromosome and balancing reciprocal deletionSemantic proximity Read ↗

A De Novo Centric Fission of Chromosome 11 in a Patient with Recurrent MiscarriagesSemantic proximity Read ↗

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.Semantic proximity Read ↗

Clinical and molecular cytogenetic observations in three cases of “trisomy 12p syndrome”Semantic proximity Read ↗

Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH.Semantic proximity Read ↗

A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype.Semantic proximity Read ↗

Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent <i>In Situ</i> hybridizationSemantic proximity Read ↗

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