How to Cite this Article: Haddad V, Aboura A, Tosca L, Guediche N, Mas A-E, L'Herminé AC, Druart L, Picone O, Brisset S, Tachdjian G. 2012. Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations. Am J Med Genet Part A 158A:894–900.
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations†
Article first published online: 14 MAR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 4, pages 894–900, April 2012
How to Cite
Haddad, V., Aboura, A., Tosca, L., Guediche, N., Mas, A.-E., L'Herminé, A. C., Druart, L., Picone, O., Brisset, S. and Tachdjian, G. (2012), Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations. Am. J. Med. Genet., 158A: 894–900. doi: 10.1002/ajmg.a.35258
- Issue published online: 23 MAR 2012
- Article first published online: 14 MAR 2012
- Manuscript Accepted: 23 DEC 2011
- Manuscript Received: 12 MAR 2011
- tetrasomy 13q;
- supernumerary marker chromosome;
- array CGH;
- genotype–phenotype correlation
Small supernumerary marker chromosome (sSMC) lacking alpha satellite DNA or endogenous centromere regions are rare and contain fully functional centromeres, called neocentromeres. We report on a woman with a 14-week gestation pregnancy with a cystic hygroma and cerebellar hypoplasia at ultrasound examination. Cytogenetic studies showed a karyotype 47,XY,+mar dn. This sSMC was observed in chorionic villi, lung, and muscle tissue. Array Comparative Genomic Hybridization showed a gain from 13q31.1 to 13qter region. Fluorescent in situ hybridization with pan alpha satellite probe and probes specific for chromosome 13 showed a marker corresponding to an inversion duplication of the 13q distal chromosomal region without alpha satellite DNA sequence, suggesting the presence of a neocentromere. Examination of the fetus showed dysmorphic features, cystic cervical hygroma, postaxial polydactyly of the right hand and left foot with short fingers, malrotation of the gut, and a micropenis with hypospadias. Genotype–phenotype correlation in tetrasomy 13q is discussed according to the four 13q chromosomal breakpoints reported (13q32, 13q31, 13q21, 13q14) for chromosome 13 supernumerary markers. © 2012 Wiley Periodicals, Inc.