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Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin

Authors :
Chih-Ping Chen
Liang-Kai Wang
Schu-Rern Chern
Peih-Shan Wu
Shin-Wen Chen
Fang-Tzu Wu
Yun-Yi Chen
Wen-Lin Chen
Li-Feng Chen
Wayseen Wang
Source :
Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 5, Pp 766-769 (2020)
Publication Year :
2020
Publisher :
Elsevier, 2020.

Abstract

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin. Case report: A 36-year-old woman underwent amniocentesis at 20 weeks of gestation because of an advanced maternal age. Her husband was 36 years old. Amniocentesis revealed a karyotype of 46,XY,del(14)(q32.1q32.2). Simultaneous array comparative genomic hybridization (aCGH) analysis showed the result of a 14q32.13-q32.2 deletion. Prenatal ultrasound was unremarkable. The parental karyotypes were normal and did not have such a deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. aCGH was applied on the DNA extracted from cord blood. Polymorphic DNA marker analysis was applied on the DNAs extracted from placenta and parental bloods. aCGH confirmed a 3.19-Mb 14q32.13-q32.2 deletion or arr 14q32.13q32.2 (96,151,751–99,341,476) × 1.0 [GRCh37 (hg19)] encompassing 10 Online Mendelian Inheritance in Man (OMIM) genes of TCL1B, TCL1A, TUNAR, BDKRB2, BDKRB1, ATG2B, GSKIP, AK7, PAPOLA and VRK1. Polymorphic DNA marker analysis confirmed a paternal origin of a de novo interstitial distal 14q deletion. Conclusion: Determination of the paternal origin of a prenatally detected de novo interstitial distal 14q deletion by polymorphic DNA marker analysis in this case is significant, and the information acquired is useful for genetic counseling, especially when amniocentesis is performed because of an advanced maternal age.

Details

Language :
English
ISSN :
10284559
Volume :
59
Issue :
5
Database :
Directory of Open Access Journals
Journal :
Taiwanese Journal of Obstetrics & Gynecology
Publication Type :
Academic Journal
Accession number :
edsdoj.b05d00aaaad2498f9cb1d2ea1666dad9
Document Type :
article
Full Text :
https://doi.org/10.1016/j.tjog.2020.07.026