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Article

Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization.

PloS one - 10 Jun 2009

Wise Jasen L, Crout Richard J, McNeil Daniel W, Weyant Robert J, Marazita Mary L, Wenger Sharon L

Abstract excerpt

Five percent of patients with unexplained mental retardation have been attributed to cryptic unbalanced subtelomeric rearrangements. Half of these affected individuals have inherited the rearrangement from a parent who is a carrier for a balanced translocation. However, the frequency of carriers for cryptic balanced translocations is unknown. To determine this frequency, 565 phenotypically normal unrelated...

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Share to Aneuploidy
Share to Chromosomes, Human, X

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

Share to Karyotyping

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Share to Translocation, Genetic

Source

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Identifiers

PMID: 19516895
DOI: 10.1371/journal.pone.0005855
PMCID: PMC2688762

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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.

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