IMR Press / CEOG / Volume 47 / Issue 5 / DOI: 10.31083/j.ceog.2020.05.5371
Open Access Case Report
Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes
Y.J. Wu1,†C.J. Yu2,†W.H. Tian3,†Z. Xu4,*
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1 Department of Obstetrics, Huanggang Central Hospital, Huanggang, Hubei, P.R. China
2 Department of Prenatal Diagnosis Center, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, P.R. China
3 Department of Reproductive Medicine Centre, Hubei Enshi Tujia and Miao Autonomous Prefecture Central Hospital, Enshi, Hubei, P.R. China
4 Department of Gynecology, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, P.R. China

Contributed equally.

Clin. Exp. Obstet. Gynecol. 2020 , 47(5), 789–791; https://doi.org/10.31083/j.ceog.2020.05.5371
Submitted: 5 September 2019 | Accepted: 29 April 2020 | Published: 15 October 2020
Abstract

The objective of this study was to report two cases of hereditary chromosomal duplications with favorable outcomes. In both cases, conventional karyotyping showed a normal karyotype. However, chromosomal microarray analysis on uncultured amniocytes detected a 3.2 Mb duplication in the region of arr[hg19] 13q12.11q12.12(22,073,046-25,230,759)×3 in case 1 and a 3.1 Mb duplication in the region of arr[hg19] 6q12(65,423,142-68,550,465)×3 in case 2. In both cases, the chromosomal duplication was inherited from a mother who has no symptoms. Both cases resulted in phenotypically normal babies.

Keywords
Conventional karyotyping
Chromosomal microarray
Microduplication
Prenatal diagnosis
Copy number variation (CNV)
Figures
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