Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency
Tatyana Vladimirovna Zolotukhina , Yelena Vladimirovna Yudina , Nadezhda Vladimirovna Shilova , Marina Yevgenyevna Minzhenkova , Yuliya Olegovna Kozlova , Zhanna Gennadiyevna Markova
Journal of obstetrics and women's diseases ›› 2013, Vol. 62 ›› Issue (2) : 88 -92.
Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency
The data provided are given as an illustration of molecular-cytogenetic approach for improvement of prenatal cytogenetic diagnosis of rare chromosomal abnormalities. The main indication for prenatal karyotyping discussed herein presented with increased nuchal translucency at 10–14 weeks of gestation. The following rare chromosomal abnormalities were revealed by FIASH: microdeletion 22q11.2, r(13)(p11q22), dup(8)(p23p12), del (13)(q34), invdupY(q10), two sSNMCs of 5 and 20 chromosomes origin. The importance of improving and systematizing of the ultrasonographic diagnosis of “mild” developmental defects, providing of the expanded prenatal molecular studies and contemporary FISH-technique application is emphasized.
increased nuchal translucency / prenatal diagnosis / rare chromosomal abnormalities
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Zolotukhina T.V., Yudina Y.V., Shilova N.V., Minzhenkova M.Y., Kozlova Y.O., Markova Z.G.
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