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Article

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

American journal of medical genetics - 16 Nov 1998

Berend S A, Canún S, McCaskill C, Page S L, Shaffer L G

Abstract excerpt

Robertsonian translocations (ROBs) involving chromosome 21 occur in about 5% of individuals with Down syndrome. ROBs are the most common chromosomal rearrangements in humans and are formed through whole arm exchanges of any two acrocentric chromosomes. The de novo formation of ROBs occurs at exce...

Topics

Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 21
Gene Rearrangement
Genetic Variation
Humans
In Situ Hybridization, Fluorescence
Infant
Mosaicism
Polymerase Chain Reaction
Prohibitins
Translocation, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9843048
DOI: 10.1002/(sici)1096-8628(19981116)80:3<252::aid-ajmg14>3.0.co;2-q

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9843048-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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