Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Weimin Bi; Bo Yuan; Pengfei Liu; Jaclyn B Murry; Xiang Qin; Fan Xia; Thao Quach; Lance M Cooper; Joanna Wiszniewska; Patricia Hixson; Sandra Peacock; Vijay S Tonk; Robert W Huff; Veronica Ortega; James R Lupski; Steven E Scherer; Rebecca Okashah Littlejohn; Gopalrao V N Velagaleti; Elizabeth R Roeder; Sau Wai Cheung

doi:10.1136/jmg-2022-108586

Article info

Chromosomal rearrangements

Original research

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Authors

Weimin Bi Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Baylor Genetics, Houston, Texas, USA PubMed articles Google scholar articles
Bo Yuan Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Pengfei Liu Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Baylor Genetics, Houston, Texas, USA PubMed articles Google scholar articles
Jaclyn B Murry Baylor Genetics, Houston, Texas, USA Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland, USA PubMed articles Google scholar articles
Xiang Qin Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Fan Xia Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Baylor Genetics, Houston, Texas, USA PubMed articles Google scholar articles
Thao Quach Baylor Genetics, Houston, Texas, USA PubMed articles Google scholar articles
Lance M Cooper Baylor Genetics, Houston, Texas, USA PubMed articles Google scholar articles
Joanna Wiszniewska Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, Oregon, USA PubMed articles Google scholar articles
Patricia Hixson Baylor Genetics, Houston, Texas, USA PubMed articles Google scholar articles
Sandra Peacock Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Baylor Genetics, Houston, Texas, USA PubMed articles Google scholar articles
Vijay S Tonk Departments of Pediatrics, Obstetrics and Gynecology, Pathology, Texas Tech University Health Science Centers, Lubbock, Texas, USA PubMed articles Google scholar articles
Robert W Huff Department of Obstetrics and Gynecology, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articles Google scholar articles
Veronica Ortega Department of Pathology and Laboratory Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articles Google scholar articles
James R Lupski Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Texas Children's Hospital, Houston, Texas, USA Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Steven E Scherer Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Rebecca Okashah Littlejohn Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA PubMed articles Google scholar articles
Gopalrao V N Velagaleti Department of Pathology and Laboratory Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articles Google scholar articles
Elizabeth R Roeder Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA PubMed articles Google scholar articles
Sau Wai Cheung Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles

Correspondence to Dr Sau Wai Cheung, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA; scheung{at}bcm.edu; Dr Elizabeth R Roeder; Elizabeth.roeder{at}bcm.edu

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Citation

Bi W, Yuan B, Liu P, et al

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Journal of Medical Genetics 2023;60:547-556.

Publication history

Received April 12, 2022
Accepted September 14, 2022
First published September 23, 2022.

Online issue publication

May 22, 2023

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