caa a22 4500 475785967 CHVBK 20180406123658.0 cr unu---uuuuu 170329e20000301xx s 000 0 eng 10.1007/s004310050064 doi (NATIONALLICENCE)springer-10.1007/s004310050064 Maternal uniparental disomy 7 - review and further delineation of the phenotype [Elektronische Daten] [D. Kotzot, D. Balmer, A. Baumer, K. Chrzanowska, B. C. J. Hamel, H. Ilyina, M. Krajewska-Walasek, I. W. Lurie, B. J. Otten, E. Schoenle, G. Tariverdian, A. Schinzel] Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reported by us, and review the clinical and molecular findings of all 32 cases. We found a phenotype characterized by pre- and postnatal growth retardation, occipitofrontal head circumference in the lower normal range, a triangular face, and retarded bone maturation. Findings of the facial gestalt included a high and broad forehead and a pointed chin. A broad mouth with down-turned corners, prominent ears, café-au-lait spots, hemihypotrophy, or clinodactyly were rarely present. Psychomotor development was delayed in 6 cases. The clinical findings strikingly resemble the phenotype of the heterogeneous Silver-Russell syndrome (SRS). Other anomalies were less frequently found than in SRS. Molecular investigations revealed 11 cases with isodisomy and 17 cases with heterodisomy. In 4 cases this information was not available. From the allelic distribution of the microsatellites investigated, 9 cases might be the consequence of an error at maternal meiosis I, and 6 cases might be due to non-disjunction at maternal meiosis II. Three of the 17 heterodisomic cases had trisomy 7 in chorionic villi, in the remaining cases no prenatal diagnosis through chorionic villus sampling was reported. Conclusion Maternal UPD 7 should be investigated in children with pre- and postnatal growth retardation and a facial gestalt characterized by a high and broad forehead and a pointed chin, as well as in confined placental mosaicism for trisomy 7. Springer-Verlag Berlin Heidelberg, 2000 Key words Heterodisomy nationallicence Isodisomy nationallicence Maternal uniparental disomy 7 nationallicence Mosaicism nationallicence Silver-Russell syndrome nationallicence Kotzot D. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut Balmer D. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut Baumer A. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut Chrzanowska K. The Children's Memorial Health Institute, Warsaw, Poland, PL aut Hamel B. C. J. Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands, NL aut Ilyina H. Institute of Hereditary Diseases, University of Minsk, Minsk, Belarus, BY aut Krajewska-Walasek M. The Children's Memorial Health Institute, Warsaw, Poland, PL aut Lurie I. W. Institute of Hereditary Diseases, University of Minsk, Minsk, Belarus, BY aut Otten B. J. Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands, NL aut Schoenle E. Department of Pediatrics, University of Zurich, Zürich, Switzerland, CH aut Tariverdian G. Institute for Human Genetics, University of Heidelberg, Heidelberg, Germany, DE aut Schinzel A. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut https://doi.org/10.1007/s004310050064 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050064 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kotzot D. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut NATIONALLICENCE 700 1- Balmer D. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut NATIONALLICENCE 700 1- Baumer A. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut NATIONALLICENCE 700 1- Chrzanowska K. The Children's Memorial Health Institute, Warsaw, Poland, PL aut NATIONALLICENCE 700 1- Hamel B. C. J. Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands, NL aut NATIONALLICENCE 700 1- Ilyina H. Institute of Hereditary Diseases, University of Minsk, Minsk, Belarus, BY aut NATIONALLICENCE 700 1- Krajewska-Walasek M. The Children's Memorial Health Institute, Warsaw, Poland, PL aut NATIONALLICENCE 700 1- Lurie I. W. Institute of Hereditary Diseases, University of Minsk, Minsk, Belarus, BY aut NATIONALLICENCE 700 1- Otten B. J. Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands, NL aut NATIONALLICENCE 700 1- Schoenle E. Department of Pediatrics, University of Zurich, Zürich, Switzerland, CH aut NATIONALLICENCE 700 1- Tariverdian G. Institute for Human Genetics, University of Heidelberg, Heidelberg, Germany, DE aut NATIONALLICENCE 700 1- Schinzel A. Institute for Medical Genetics, University of Zurich, Rämistrasse 74, 8001 Zürich, Switzerland e-mail: Kotzot@medgen.unizh.ch Tel.: +41-1-6342522; Fax: +41-1-6344916, CH aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer