Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review
Joint Authors
Xi, Qi
Yue, Fagui
Liu, Ruizhi
Zhang, Han
Liu, Xiangyin
Zhang, Hongguo
Sun, Meiling
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-28
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders.
Herein, we reported a prenatal case with right aortic arch and aberrant left subclavian artery, consisting of a complex chromosomal copy number variations.
Routine cytogenetic analysis described the chromosomal karyotype as 46,XY, add (2)(q37) for the fetus.
However, the chromosomal microarray analysis (CMA) identified a 22.4 Mb duplication in chromosome 4p16.3p15.2, a 3.96 Mb microduplication in 12p11.1q11, and a 1.68 Mb microdeletion in Xp22.31.
Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe was found to hybridize to the terminal of chromosome 2q on the fetus, thus confirming that the extra genetic materials of chromosome 2 was actually trisomy 4p detected through CMA.
Meanwhile, the parental karyotypes were normal, which proved that the add (2) was de novo for fetus.
The duplication of Wolf-Hirschhorn syndrome critical region (WHSCR) and X-linked recessive ichthyosis associated with Xp22.31 deletion separately were considered potentially pathogenic causes although other abnormalities involving these syndromes were not observed.
For prenatal cases, the combined utilization of ultrasonography, traditional cytogenetic, and molecular diagnosis technology will enhance better diagnostic benefits, offer more detailed genetic counselling, and assess the prognosis of the fetuses.
American Psychological Association (APA)
Zhang, Han& Xi, Qi& Liu, Xiangyin& Yue, Fagui& Zhang, Hongguo& Sun, Meiling…[et al.]. 2020. Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review. BioMed Research International،Vol. 2020, no. 2020, pp.1-10.
https://search.emarefa.net/detail/BIM-1131924
Modern Language Association (MLA)
Zhang, Han…[et al.]. Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review. BioMed Research International No. 2020 (2020), pp.1-10.
https://search.emarefa.net/detail/BIM-1131924
American Medical Association (AMA)
Zhang, Han& Xi, Qi& Liu, Xiangyin& Yue, Fagui& Zhang, Hongguo& Sun, Meiling…[et al.]. Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-10.
https://search.emarefa.net/detail/BIM-1131924
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1131924