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

Under‐ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes

14 Apr 2003

Abstract excerpt

Acrocentric rearrangements are the most common chromosome abnormalities in humans. Carriers of homologous acrocentric rearrangements (Robertsonian translocations (ROBs) between homologous chromosomes and isochromosomes) are at very high risk of having multiple spontaneous abortions and chromosomally abnormal offspring. Parents of fetuses and children with unbalanced homologous acrocentric rearrangements are...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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

Source

Identifiers

PMID: 12910502
DOI: 10.1002/ajmg.a.20156

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

Under‐ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomesPMID 12910502Read ↗

Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new casesSemantic proximity Read ↗

Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect.Semantic proximity Read ↗

Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.Semantic proximity Read ↗

Uniparental disomy: Origin, frequency, and clinical significanceSemantic proximity Read ↗

Nondisjunction in trisomy 21: Origin and mechanismsSemantic proximity Read ↗

Are de novo rea(21;21) chromosomes really de novo?Semantic proximity Read ↗

Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangementsSemantic proximity Read ↗

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi‐generation pedigreeSemantic proximity Read ↗

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.Semantic proximity Read ↗

A rare Robertsonian translocation rob(14;22) carrier with azoospermia, meiotic defects, and testicular sperm aneuploidySemantic proximity Read ↗

Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation.Semantic proximity Read ↗

Mitotic errors in chromosome 21 of human preimplantation embryos are associated with non-viabilitySemantic proximity Read ↗

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