Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
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| Abstract |
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.
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| Authors | Véronique Haddad, Azzedine Aboura, Lucie Tosca, Narjes Guediche, Anne-Elisabeth Mas, Aurore Coulomb L'Herminé, Luc Druart, Olivier Picone, Sophie Brisset, Gérard Tachdjian |
| Journal | American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 4 Pg. 894-900 (Apr 2012) ISSN: 1552-4833 [Electronic] United States |
| PMID | 22419357 (Publication Type: Case Reports, Journal Article) |
| Copyright | Copyright © 2012 Wiley Periodicals, Inc. |
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