A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review
Author:
Affiliation:
1. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA
2. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62166
Reference40 articles.
1. Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center
2. Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism
3. Trisomy 9: Review and report of two new cases
4. Mosaicism for trisomy 12: Four cases with varying outcomes
5. Mosaic trisomy 12: Prenatal diagnosis at amniocentesis and molecular genetic analysis on fetal tissues;Bonasoni P.;Fetal and Pediatric Pathology,2020
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1. The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis;American Journal of Obstetrics and Gynecology;2023-03
2. Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review;BMC Medical Genomics;2022-10-31
3. Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders;Molecular Cytogenetics;2022-03-05
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