التفاصيل البيبلوغرافية
| العنوان: |
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. |
| المؤلفون: |
Golzio, Christelle, Guirchoun, Jessica, Ozilou, Catherine, Thomas, Sophie, Goudefroye, Géraldine, Morichon-Delvallez, Nicole, Vekemans, Michel, Attié-Bitach, Tania, Etchevers, Heather C. |
| المصدر: |
Prenatal Diagnosis; Dec2006, Vol. 26 Issue 13, p1201-1205, 5p |
| مستخلص: |
Background Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic development. We report a case of chromosome 8 trisomy in a human embryo examined at Carnegie stage 11 (25 days post-fertilization). It presented severe cardiovascular and central nervous system malformations. Methods The unusual bifid heart in this embryo spurred a detailed histological examination, karyotyping of a chorionic villus sample and subsequent FISH on inter-phase nuclei of intra-embryonic sections. Results Trophoblast cells had a karyotype of 47,XX, +8. Within the embryo proper, FISH demonstrated that the trisomy 8 was homogeneous in embryonic as well as extra-embryonic tissues. FQ-PCR supports a meiosis I origin of non-disjunction. In sections, the pharyngeal arches (including cardiac outflow tract), forebrain, mesonephros and liver were absent. Somites and yolk sac blood vessels were irregularly shaped. Conclusion We show that homogeneous, intra-embryonic trisomy 8 is compatible with implantation and early human development. Molecular pathways that may be compromised and their impact on organogenesis are discussed. Copyright © 2006 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
