Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome |
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| Authors: | Chih-Ping Chen Chang-Sheng Yin Liang-Kai Wang Schu-Rern Chern Shin-Wen Chen Shih-Ting Lai Peih-Shan Wu Wen-Lin Chen Wayseen Wang |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan;3. Department of Biotechnology, Asia University, Taichung, Taiwan;4. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;5. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;6. Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan;7. Department of Obstetrics and Gynecology, Kang-Ning General Hospital, Taipei, Taiwan;8. Gene Biodesign Co. Ltd, Taipei, Taiwan;9. Department of Bioengineering, Tatung University, Taipei, Taiwan |
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| Abstract: | ObjectiveWe present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS).Case reportA 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3.749-Mb deletion at 20p13-p12.3 and a 1.84-Mb deletion at 20p12.2 encompassing the gene of JAG1. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The fetus postnatally manifested characteristic facial features of ALGS. Postnatal molecular cytogenetic analysis of fetal tissues confirmed the prenatal diagnosis. Polymorphic DNA marker analysis revealed a paternal origin of the deletion.ConclusionA de novo interstitial 20p deletion can be caused by a paternal effect. Pregnancy with a fetus affected with ALGS may be associated with an abnormal result of combined first-trimester screening and manifest no detectable ultrasound abnormalities. |
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| Keywords: | Alagille syndrome 20p12 deletion Prenatal diagnosis |
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