Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities

Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities

We report on the phenotype and the reproductive history of an adult female patient with an unbalanced karyotype: 8p23 and 18p11.3 terminal deletions and 8p22 duplication. The indication for karyotyping of the 28-year-old patient was a structural rearrangement in her miscarriage specimen: 45,ХХ,der(8...

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Main Authors: Anna A. Pendina, Yulia V. Shilenkova, Olga E. Talantova, Olga A. Efimova, Olga G. Chiryaeva, Olga V. Malysheva, Vera S. Dudkina, Lubov' I. Petrova, Elena A. Serebryakova, Elena S. Shabanova, Irina D. Mekina, Evgeniia M. Komarova, Alla S. Koltsova, Andrei V. Tikhonov, Tatyana G. Tral, Gulrukhsor Kh. Tolibova, Natalia S. Osinovskaya, Mikhail I. Krapivin, Anastasiia V. Petrovskaia-Kaminskaia, Taisia S. Korchak, Tatyana E. Ivashchenko, Oleg S. Glotov, Olga V. Romanova, Anton E. Shikov, Stanislav P. Urazov, Viktoriya V. Tsay, Yurii A. Eismont, Sergei G. Scherbak, Yanina M. Sagurova, Elena S. Vashukova, Polina Y. Kozyulina, Natalya M. Dvoynova, Andrey S. Glotov, Vladislav S. Baranov, Alexander M. Gzgzyan, Igor Yu. Kogan
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Genetics
Subjects:
8p deletion
18p deletion
8p duplication
genotype–phenotype correlation
miscarriage
PGT-SR
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01164/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.01164/full

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