Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations. Haddad, V., Aboura, A., Tosca, L., Guediche, N., Mas, A., L'Herminé, A. C., Druart, L., Picone, O., Brisset, S., & Tachdjian, G. Am J Med Genet A, 158A(4):894–900, 2012. Paper abstract bibtex 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.
@article{haddad_tetrasomy_2012,
title = {Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations},
volume = {158A},
issn = {1552-4833},
shorttitle = {Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations},
url = {http://dx.doi.org/10.1002/ajmg.a.35258},
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.},
number = {4},
journal = {Am J Med Genet A},
author = {Haddad, Véronique and Aboura, Azzedine and Tosca, Lucie and Guediche, Narjes and Mas, Anne-Elisabeth and L'Herminé, Aurore Coulomb and Druart, Luc and Picone, Olivier and Brisset, Sophie and Tachdjian, Gérard},
year = {2012},
pages = {894--900},
}
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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.","number":"4","journal":"Am J Med Genet A","author":[{"propositions":[],"lastnames":["Haddad"],"firstnames":["Véronique"],"suffixes":[]},{"propositions":[],"lastnames":["Aboura"],"firstnames":["Azzedine"],"suffixes":[]},{"propositions":[],"lastnames":["Tosca"],"firstnames":["Lucie"],"suffixes":[]},{"propositions":[],"lastnames":["Guediche"],"firstnames":["Narjes"],"suffixes":[]},{"propositions":[],"lastnames":["Mas"],"firstnames":["Anne-Elisabeth"],"suffixes":[]},{"propositions":[],"lastnames":["L'Herminé"],"firstnames":["Aurore","Coulomb"],"suffixes":[]},{"propositions":[],"lastnames":["Druart"],"firstnames":["Luc"],"suffixes":[]},{"propositions":[],"lastnames":["Picone"],"firstnames":["Olivier"],"suffixes":[]},{"propositions":[],"lastnames":["Brisset"],"firstnames":["Sophie"],"suffixes":[]},{"propositions":[],"lastnames":["Tachdjian"],"firstnames":["Gérard"],"suffixes":[]}],"year":"2012","pages":"894–900","bibtex":"@article{haddad_tetrasomy_2012,\n\ttitle = {Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations},\n\tvolume = {158A},\n\tissn = {1552-4833},\n\tshorttitle = {Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations},\n\turl = {http://dx.doi.org/10.1002/ajmg.a.35258},\n\tabstract = {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.},\n\tnumber = {4},\n\tjournal = {Am J Med Genet A},\n\tauthor = {Haddad, Véronique and Aboura, Azzedine and Tosca, Lucie and Guediche, Narjes and Mas, Anne-Elisabeth and L'Herminé, Aurore Coulomb and Druart, Luc and Picone, Olivier and Brisset, Sophie and Tachdjian, Gérard},\n\tyear = {2012},\n\tpages = {894--900},\n}\n\n","author_short":["Haddad, V.","Aboura, A.","Tosca, L.","Guediche, N.","Mas, A.","L'Herminé, A. 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