Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid |
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| Authors: | M. Essaoui M. Nizon M.P. Beaujard A. Carrier J. Tantau M.C. de Blois S. Fontaine C. Michot J. Amiel J.P. Bernard T. Attié-Bitach M. Vekemans C. Turleau Y. Ville V. Malan |
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| Affiliation: | 1. Service de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France;2. Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France;3. Université Paris Descartes, Hôpital Necker-Enfants Malades, AP-HP, Paris, France;1. Department of Clinical Radiology, Kuopio University Hospital, P.O. Box 100, FI-70029 KYS, Finland;2. Department of Clinical Neurophysiology, Kuopio University Hospital, P.O. Box 100, FI-70029 KYS, Finland;3. Department of Clinical Neurophysiology, School of Medicine, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland;4. Department of Neurology, Kuopio University Hospital, P.O. Box 100, FI-70029 KYS, Finland;5. Department of Neurology, School of Medicine, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland;6. Department of Applied Physics, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland;7. Department of Clinical Radiology, Institute of Clinical Medicine, School of Medicine, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland;1. Key Laboratory of Human Functional Genomics of Jiangsu Province, Nanjing Medical University, Nanjing 210029, PR China;2. Department of Biochemistry and Molecular Biology, Nanjing Medical University, Nanjing 210029, PR China;3. Laboratory Center for Basic Medical Sciences, Nanjing Medical University, Nanjing 210029, PR China;1. Pfizer Global Research and Development, New York, NY, USA;2. Institute of Immunology and Genetics, SEQ.IT GmbH, Kaiserslautern, Germany;3. Pfizer Global Research and Development, Sandwich, UK;4. Max-Planck-Institute for Informatics, Saarbrücken, Germany;5. ViiV Healthcare, Research Triangle Park, NC, USA;6. Pfizer Global Research and Development, Groton, CT, USA;1. Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain;3. Servizo de Psiquiatría, Complexo Hospitalario Universitario de Santiago de Compostela, Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain |
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| Abstract: | Discordant chromosomal anomalies in monozygotic twins may be caused by various timing issues of erroneous mitosis and twinning events. Here, we report a prenatal diagnosis of heterokaryotypic monozygotic twins discordant for phenotype. In a 28-year-old woman, ultrasound examination performed at 26 weeks of gestation, detected intrauterine growth restriction and unilateral cleft lip and palate in twin B, whereas twin A had normal fluid, growth and anatomy. Molecular karyotyping in twin B identified a 18q21.2qter deletion, further confirmed by FISH analysis on amniocytes. Interestingly, in twin A, cytogenetic studies (FISH analysis and karyotype) on amniocytes were normal. Genotyping with microsatellite markers confirmed the monozygosity of the twins. At 32 weeks of gestation, selective termination of twin B was performed by umbilical cord coagulation and fetal blood samples were taken from the umbilical cord in both twins. FISH analyses detected mosaicism in both twins with 75% of cells being normal and 25% harboring the 18qter deletion. After genetic counseling, the parents elected to terminate the second twin at 36 weeks of gestation. In postmortem studies, FISH analyses revealed mosaicism on several tissues in both twins. Taking into account this observation, we discuss the difficulties of genetic counseling and management concerning heterokaryotypic monozygotic twins. |
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| Keywords: | Array CGH Monozygotic twins Deletion 18q21.2qter |
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