How to cite this article: Engels H, Eggermann T, Caliebe A, Jelska A, Schubert R, Schüler HM, Panasiuk B, Zaremba J, Latos-Bieleńska A, Jakubowski L, Zerres KP, Schwanitz G, Midro AT. 2008. Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet Part A 146A:2611–2616.
Article first published online: 16 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 20, pages 2611–2616, 15 October 2008
How to Cite
Engels, H., Eggermann, T., Caliebe, A., Jelska, A., Schubert, R., Schüler, H. M., Panasiuk, B., Zaremba, J., Latos-Bieleńska, A., Jakubowski, L., Zerres, K. P., Schwanitz, G. and Midro, A. T. (2008), Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees. Am. J. Med. Genet., 146A: 2611–2616. doi: 10.1002/ajmg.a.32500
Gesa Schwanitz, Alina T. Midro contributed equally to this work.
- Issue published online: 24 SEP 2008
- Article first published online: 16 SEP 2008
- Manuscript Accepted: 30 JUN 2008
- Manuscript Received: 24 AUG 2007
- BMBF. Grant Number: POL03/025
- KBN. Grant Numbers: 5253, 2 PO5A 089 27
- AMB. Grant Number: 4-06 760
- frequency of unbalanced progeny;
- der(13 ;14);
- genetic counseling;
- pregnancy outcome;
- Robertsonian translocation
Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more than 20 years old. Their results are often contradictory regarding important topics in genetic counseling such as infertility and unfavorable pregnancy outcomes. Here, we present a study on a sample of 101 previously unreported pedigrees of der(13;14)(q10;q10). In order to minimize problems of partial ascertainment, we included families with a wide range of reasons of ascertainment such as birth of a child with congenital anomalies, prenatal diagnosis due to maternal age, fertility problems and recurrent pregnancy loss. No evidence of increased infertility rates of female and male carriers was found. The detected miscarriage frequency of female carriers was higher than previously reported (27.6 ± 4.0% of all spontaneous pregnancies). This may be explained by an over-correction of earlier studies, which excluded all unkaryotyped miscarriages. In three out of 42 amniocenteses, translocation trisomies 13 were diagnosed (7.1 ± 4.0% of all amniocenteses). The frequency of stillbirths was 3.3 ± 1.6% for female carriers and 1.4 ± 1.4% for male carriers. A low risk for the live birth of translocation trisomy 13 children was confirmed since no live born children with trisomy 13 or Pätau syndrome were detected in the ascertainment-corrected sample. © 2008 Wiley-Liss, Inc.