Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency

Tatyana Vladimirovna Zolotukhina; Золотухина Татьяна Владимировна; Yelena Vladimirovna Yudina; Юдина Елена Владимировна; Nadezhda Vladimirovna Shilova; Шилова Надежда Владимировна; Marina Yevgenyevna Minzhenkova; Миньженкова Марина Евгеньевна; Yuliya Olegovna Kozlova; Козлова Юлия Олеговна; Zhanna Gennadiyevna Markova; Маркова Жанна Геннадиевна

doi:10.17816/JOWD62288-92

Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency

作者: Zolotukhina T.¹, Yudina Y.¹, Shilova N.¹, Minzhenkova M.¹, Kozlova Y.¹, Markova Z.¹
隶属关系:
1. Research Centre for Medical Genetics
期: 卷 62, 编号 2 (2013)
页面: 88-92
栏目: Articles
URL: https://journals.rcsi.science/jowd/article/view/2640
DOI: https://doi.org/10.17816/JOWD62288-92
ID: 2640

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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.

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increased nuchal translucency, prenatal diagnosis, rare chromosomal abnormalities

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Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency

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详细

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作者简介

Tatyana Zolotukhina

Yelena Yudina

Nadezhda Shilova

Marina Minzhenkova

Yuliya Kozlova

Zhanna Markova

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