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Article

Precise breakpoint detection in a patient with 9p- syndrome.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Ng Jeffrey, Sams Eleanor, Baldridge Dustin, Kremitzki Milinn, Wegner Daniel J, Lindsay Tina, Fulton Robert, Cole F Sessions, Turner Tychele N

Abstract excerpt

We present a case of 9p- syndrome with a complex chromosomal event originally characterized by the classical karyotype approach as 46,XX,der(9)t(9;13)(p23;q13). We used advanced technologies (Bionano Genomics genome imaging and 10× Genomics sequencing) to characterize the location of the translocation and accompanying deletion on Chromosome 9 and duplication on Chromosome 13 with single-nucleotide breakpoint...

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Share to Chromosome Breakpoints
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 9

Share to Comparative Genomic Hybridization

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Share to Loss of Function Mutation

Share to Translocation, Genetic

Source

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Identifiers

PMID: 32532883
DOI: 10.1101/mcs.a005348
PMCID: PMC7304358

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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