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Two unusual chromosome aberrations ascertained by sonographic anomalies
Author(s) -
Bourthoumieu Sylvie,
Esclaire Francoise,
Terro Faraj,
Fiorenza Maryse,
Eyraud JeanLuc,
Servaud Michel,
Cantaloube Muriel,
Fermeaux Veronique,
Yardin Catherine
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.839
Subject(s) - dup , chromosomal inversion , karyotype , trisomy , biology , chromosomal translocation , cystic hygroma , cytogenetics , holoprosencephaly , chromosomal rearrangement , aneuploidy , monosomy , chromosome , genetics , gene duplication , fetus , pregnancy , gene
We describe two cases of sonographic abnormalities associated with unusual chromosomal aberrations. Case 1 presented with a cystic hygroma at 12 weeks' gestation. Cytogenetic analysis revealed an unbalanced complex chromosome rearrangement implicating chromosomes 6, 13 and 21 (karyotype: 47,XX,t(6;21;14)(q14;q21;q21)mat,+21) and corresponding to a complete trisomy 21. This anomaly resulted from malsegregation of a maternal balanced three‐way translocation. For case 2, an alobar holoprosencephaly was identified by ultrasonography at 23 weeks' gestation. Chromosomal analysis showed a recombinant rec (13), dup q chromosome, secondary to unequal crossing‐over of a paternal pericentric inversion of chromosome 13, giving rise to partial trisomy 13q (karyotype: 46,XX,rec(13)dup(13q)inv(13)(p11q21)pat). These two cases illustrate the role of ultrasound in leading to detection not only of foetal chromosomal aberrations but also of rare balanced chromosomal rearrangements presented by one of the two parents. Copyright © 2004 John Wiley & Sons, Ltd.