Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations

Affiliations

¹ Laboratory of Developmental Toxicology, Department of General Biology, State University of Londrina.
² Department of Pediatrics and Pediatric Surgery, State University of Londrina.
³ Genetic Counseling Service, Department of General Biology, State University of Londrina, Londrina, Paraná.
⁴ Human Genetics and Mutagenesis Laboratory, Department of Genetics, Institute of Biology, Federal University of Bahia, Salvador, Brazil.

Case Reports

Lucas Osiak et al. Clin Dysmorphol. 2020 Jul.

. 2020 Jul;29(3):165-166.

doi: 10.1097/MCD.0000000000000310.

¹ Laboratory of Developmental Toxicology, Department of General Biology, State University of Londrina.
² Department of Pediatrics and Pediatric Surgery, State University of Londrina.
³ Genetic Counseling Service, Department of General Biology, State University of Londrina, Londrina, Paraná.
⁴ Human Genetics and Mutagenesis Laboratory, Department of Genetics, Institute of Biology, Federal University of Bahia, Salvador, Brazil.

No abstract available

References

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1. Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, et al. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet. 2011; 19:235–238
1. Toral-Lopez J, Gonzalez-Huerta LM, Cuevas-Covarrubias SA. Complete monosomy mosaic of chromosome 21: case report and review of literature. Gene. 2012; 510:175–179