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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 exceptionally high rates. The present case concerns a child with mosaic Down syndrome who has two cell lines that contain...

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Source

Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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