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Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities. / Pendina, Anna A.; Shilenkova, Yulia V.; Talantova, Olga E.; Efimova, Olga A.; Chiryaeva, Olga G.; Malysheva, Olga V.; Dudkina, Vera S.; Petrova, Lubov' I.; Serebryakova, Elena A.; Shabanova, Elena S.; Mekina, Irina D.; Komarova, Evgeniia M.; Koltsova, Alla S.; Tikhonov, Andrei V.; Tral, Tatyana G.; Tolibova, Gulrukhsor Kh; Osinovskaya, Natalia S.; Krapivin, Mikhail I.; Petrovskaia-Kaminskaia, Anastasiia V.; Korchak, Taisia S.; Ivashchenko, Tatyana E.; Glotov, Oleg S.; Romanova, Olga V.; Shikov, Anton E.; Urazov, Stanislav P.; Tsay, Viktoriya V.; Eismont, Yurii A.; Scherbak, Sergei G.; Sagurova, Yanina M.; Vashukova, Elena S.; Kozyulina, Polina Y.; Dvoynova, Natalya M.; Glotov, Andrey S.; Baranov, Vladislav S.; Gzgzyan, Alexander M.; Kogan, Igor Yu.

In: Frontiers in Genetics, Vol. 10, 1164, 20.11.2019.

Research output: Contribution to journal › Article › peer-review

Harvard

Pendina, AA, Shilenkova, YV, Talantova, OE, Efimova, OA, Chiryaeva, OG, Malysheva, OV, Dudkina, VS, Petrova, LI, Serebryakova, EA, Shabanova, ES, Mekina, ID, Komarova, EM, Koltsova, AS, Tikhonov, AV, Tral, TG, Tolibova, GK, Osinovskaya, NS, Krapivin, MI, Petrovskaia-Kaminskaia, AV, Korchak, TS, Ivashchenko, TE, Glotov, OS, Romanova, OV, Shikov, AE, Urazov, SP, Tsay, VV, Eismont, YA, Scherbak, SG, Sagurova, YM, Vashukova, ES, Kozyulina, PY, Dvoynova, NM, Glotov, AS, Baranov, VS, Gzgzyan, AM & Kogan, IY 2019, 'Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities', Frontiers in Genetics, vol. 10, 1164. https://doi.org/10.3389/fgene.2019.01164

APA

Pendina, A. A., Shilenkova, Y. V., Talantova, O. E., Efimova, O. A., Chiryaeva, O. G., Malysheva, O. V., Dudkina, V. S., Petrova, L. I., Serebryakova, E. A., Shabanova, E. S., Mekina, I. D., Komarova, E. M., Koltsova, A. S., Tikhonov, A. V., Tral, T. G., Tolibova, G. K., Osinovskaya, N. S., Krapivin, M. I., Petrovskaia-Kaminskaia, A. V., ... Kogan, I. Y. (2019). Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities. Frontiers in Genetics, 10, [1164]. https://doi.org/10.3389/fgene.2019.01164

Vancouver

Pendina AA, Shilenkova YV, Talantova OE, Efimova OA, Chiryaeva OG, Malysheva OV et al. Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities. Frontiers in Genetics. 2019 Nov 20;10. 1164. https://doi.org/10.3389/fgene.2019.01164

Author

Pendina, Anna A. ; Shilenkova, Yulia V. ; Talantova, Olga E. ; Efimova, Olga A. ; Chiryaeva, Olga G. ; Malysheva, Olga V. ; Dudkina, Vera S. ; Petrova, Lubov' I. ; Serebryakova, Elena A. ; Shabanova, Elena S. ; Mekina, Irina D. ; Komarova, Evgeniia M. ; Koltsova, Alla S. ; Tikhonov, Andrei V. ; Tral, Tatyana G. ; Tolibova, Gulrukhsor Kh ; Osinovskaya, Natalia S. ; Krapivin, Mikhail I. ; Petrovskaia-Kaminskaia, Anastasiia V. ; Korchak, Taisia S. ; Ivashchenko, Tatyana E. ; Glotov, Oleg S. ; Romanova, Olga V. ; Shikov, Anton E. ; Urazov, Stanislav P. ; Tsay, Viktoriya V. ; Eismont, Yurii A. ; Scherbak, Sergei G. ; Sagurova, Yanina M. ; Vashukova, Elena S. ; Kozyulina, Polina Y. ; Dvoynova, Natalya M. ; Glotov, Andrey S. ; Baranov, Vladislav S. ; Gzgzyan, Alexander M. ; Kogan, Igor Yu. / Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities. In: Frontiers in Genetics. 2019 ; Vol. 10.

BibTeX

@article{c74169a4b99244b198ac4c8f760c1d02,
title = "Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities",
abstract = "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;18)t(8;18)(p23;p11.3). Unexpectedly, the patient had the same karyotype with only one normal chromosome 8, one normal chromosome 18, and a derivative chromosome, which was a product of chromosomes 8 and 18 fusion with loss of their short arm terminal regions. Fluorescence in situ hybridization revealed that derivative chromosome was a pseudodicentric with an active centromere of chromosome 8. Array comparative genomic hybridization confirmed 8p and 18p terminal deletions and additionally revealed 8p22 duplication with a total of 43 OMIM annotated genes being affected by the rearrangement. The patient had minor facial and cranial dysmorphia and no pronounced physical or mental abnormalities. She was socially normal, had higher education and had been married since the age of 26 years. Considering genetic counseling, the patient had decided to conceive the next pregnancy through in vitro fertilization (IVF) with preimplantation genetic testing for structural chromosomal aberrations (PGT-SR). She underwent four IVF/PGT-SR cycles with a total of 25 oocytes obtained and a total of 10 embryos analyzed. Only one embryo was balanced regarding chromosomes 8 and 18, while the others were unbalanced and demonstrated different combinations of the normal chromosomes 8 and 18 and the derivative chromosome. The balanced embryo was transferred, but the pregnancy was not registered. After four unsuccessful IVF/PGT-SR cycles, the patient conceived naturally. Non-invasive prenatal testing showed additional chromosome 18. The prenatal cytogenetic analysis of chorionic villi revealed an abnormal karyotype: 46,ХХ,der(8;18)t(8;18)(p23;p11.3)mat,+18. The pregnancy was terminated for medical reasons. The patient has a strong intention to conceive a karyotypically normal fetus. However, genetic counseling regarding this issue is highly challenging. Taking into account a very low chance of balanced gametes, emotional stress caused by numerous unsuccessful attempts to conceive a balanced embryo and increasing age of the patient, an IVF cycle with a donor oocyte should probably be considered.",
keywords = "18p deletion, 8p deletion, 8p duplication, genotype–phenotype correlation, miscarriage, NIPT, PGT-SR, prenatal karyotyping",
author = "Pendina, {Anna A.} and Shilenkova, {Yulia V.} and Talantova, {Olga E.} and Efimova, {Olga A.} and Chiryaeva, {Olga G.} and Malysheva, {Olga V.} and Dudkina, {Vera S.} and Petrova, {Lubov' I.} and Serebryakova, {Elena A.} and Shabanova, {Elena S.} and Mekina, {Irina D.} and Komarova, {Evgeniia M.} and Koltsova, {Alla S.} and Tikhonov, {Andrei V.} and Tral, {Tatyana G.} and Tolibova, {Gulrukhsor Kh} and Osinovskaya, {Natalia S.} and Krapivin, {Mikhail I.} and Petrovskaia-Kaminskaia, {Anastasiia V.} and Korchak, {Taisia S.} and Ivashchenko, {Tatyana E.} and Glotov, {Oleg S.} and Romanova, {Olga V.} and Shikov, {Anton E.} and Urazov, {Stanislav P.} and Tsay, {Viktoriya V.} and Eismont, {Yurii A.} and Scherbak, {Sergei G.} and Sagurova, {Yanina M.} and Vashukova, {Elena S.} and Kozyulina, {Polina Y.} and Dvoynova, {Natalya M.} and Glotov, {Andrey S.} and Baranov, {Vladislav S.} and Gzgzyan, {Alexander M.} and Kogan, {Igor Yu}",
note = "Publisher Copyright: {\textcopyright} Copyright {\textcopyright} 2019 Pendina, Shilenkova, Talantova, Efimova, Chiryaeva, Malysheva, Dudkina, Petrova, Serebryakova, Shabanova, Mekina, Komarova, Koltsova, Tikhonov, Tral, Tolibova, Osinovskaya, Krapivin, Petrovskaia-Kaminskaia, Korchak, Ivashchenko, Glotov, Romanova, Shikov, Urazov, Tsay, Eismont, Scherbak, Sagurova, Vashukova, Kozyulina, Dvoynova, Glotov, Baranov, Gzgzyan and Kogan. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.",
year = "2019",
month = nov,
day = "20",
doi = "10.3389/fgene.2019.01164",
language = "English",
volume = "10",
journal = "Frontiers in Genetics",
issn = "1664-8021",
publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities

AU - Pendina, Anna A.

AU - Shilenkova, Yulia V.

AU - Talantova, Olga E.

AU - Efimova, Olga A.

AU - Chiryaeva, Olga G.

AU - Malysheva, Olga V.

AU - Dudkina, Vera S.

AU - Petrova, Lubov' I.

AU - Serebryakova, Elena A.

AU - Shabanova, Elena S.

AU - Mekina, Irina D.

AU - Komarova, Evgeniia M.

AU - Koltsova, Alla S.

AU - Tikhonov, Andrei V.

AU - Tral, Tatyana G.

AU - Tolibova, Gulrukhsor Kh

AU - Osinovskaya, Natalia S.

AU - Krapivin, Mikhail I.

AU - Petrovskaia-Kaminskaia, Anastasiia V.

AU - Korchak, Taisia S.

AU - Ivashchenko, Tatyana E.

AU - Glotov, Oleg S.

AU - Romanova, Olga V.

AU - Shikov, Anton E.

AU - Urazov, Stanislav P.

AU - Tsay, Viktoriya V.

AU - Eismont, Yurii A.

AU - Scherbak, Sergei G.

AU - Sagurova, Yanina M.

AU - Vashukova, Elena S.

AU - Kozyulina, Polina Y.

AU - Dvoynova, Natalya M.

AU - Glotov, Andrey S.

AU - Baranov, Vladislav S.

AU - Gzgzyan, Alexander M.

AU - Kogan, Igor Yu

N1 - Publisher Copyright: © Copyright © 2019 Pendina, Shilenkova, Talantova, Efimova, Chiryaeva, Malysheva, Dudkina, Petrova, Serebryakova, Shabanova, Mekina, Komarova, Koltsova, Tikhonov, Tral, Tolibova, Osinovskaya, Krapivin, Petrovskaia-Kaminskaia, Korchak, Ivashchenko, Glotov, Romanova, Shikov, Urazov, Tsay, Eismont, Scherbak, Sagurova, Vashukova, Kozyulina, Dvoynova, Glotov, Baranov, Gzgzyan and Kogan. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.

PY - 2019/11/20

Y1 - 2019/11/20

N2 - 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;18)t(8;18)(p23;p11.3). Unexpectedly, the patient had the same karyotype with only one normal chromosome 8, one normal chromosome 18, and a derivative chromosome, which was a product of chromosomes 8 and 18 fusion with loss of their short arm terminal regions. Fluorescence in situ hybridization revealed that derivative chromosome was a pseudodicentric with an active centromere of chromosome 8. Array comparative genomic hybridization confirmed 8p and 18p terminal deletions and additionally revealed 8p22 duplication with a total of 43 OMIM annotated genes being affected by the rearrangement. The patient had minor facial and cranial dysmorphia and no pronounced physical or mental abnormalities. She was socially normal, had higher education and had been married since the age of 26 years. Considering genetic counseling, the patient had decided to conceive the next pregnancy through in vitro fertilization (IVF) with preimplantation genetic testing for structural chromosomal aberrations (PGT-SR). She underwent four IVF/PGT-SR cycles with a total of 25 oocytes obtained and a total of 10 embryos analyzed. Only one embryo was balanced regarding chromosomes 8 and 18, while the others were unbalanced and demonstrated different combinations of the normal chromosomes 8 and 18 and the derivative chromosome. The balanced embryo was transferred, but the pregnancy was not registered. After four unsuccessful IVF/PGT-SR cycles, the patient conceived naturally. Non-invasive prenatal testing showed additional chromosome 18. The prenatal cytogenetic analysis of chorionic villi revealed an abnormal karyotype: 46,ХХ,der(8;18)t(8;18)(p23;p11.3)mat,+18. The pregnancy was terminated for medical reasons. The patient has a strong intention to conceive a karyotypically normal fetus. However, genetic counseling regarding this issue is highly challenging. Taking into account a very low chance of balanced gametes, emotional stress caused by numerous unsuccessful attempts to conceive a balanced embryo and increasing age of the patient, an IVF cycle with a donor oocyte should probably be considered.

AB - 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;18)t(8;18)(p23;p11.3). Unexpectedly, the patient had the same karyotype with only one normal chromosome 8, one normal chromosome 18, and a derivative chromosome, which was a product of chromosomes 8 and 18 fusion with loss of their short arm terminal regions. Fluorescence in situ hybridization revealed that derivative chromosome was a pseudodicentric with an active centromere of chromosome 8. Array comparative genomic hybridization confirmed 8p and 18p terminal deletions and additionally revealed 8p22 duplication with a total of 43 OMIM annotated genes being affected by the rearrangement. The patient had minor facial and cranial dysmorphia and no pronounced physical or mental abnormalities. She was socially normal, had higher education and had been married since the age of 26 years. Considering genetic counseling, the patient had decided to conceive the next pregnancy through in vitro fertilization (IVF) with preimplantation genetic testing for structural chromosomal aberrations (PGT-SR). She underwent four IVF/PGT-SR cycles with a total of 25 oocytes obtained and a total of 10 embryos analyzed. Only one embryo was balanced regarding chromosomes 8 and 18, while the others were unbalanced and demonstrated different combinations of the normal chromosomes 8 and 18 and the derivative chromosome. The balanced embryo was transferred, but the pregnancy was not registered. After four unsuccessful IVF/PGT-SR cycles, the patient conceived naturally. Non-invasive prenatal testing showed additional chromosome 18. The prenatal cytogenetic analysis of chorionic villi revealed an abnormal karyotype: 46,ХХ,der(8;18)t(8;18)(p23;p11.3)mat,+18. The pregnancy was terminated for medical reasons. The patient has a strong intention to conceive a karyotypically normal fetus. However, genetic counseling regarding this issue is highly challenging. Taking into account a very low chance of balanced gametes, emotional stress caused by numerous unsuccessful attempts to conceive a balanced embryo and increasing age of the patient, an IVF cycle with a donor oocyte should probably be considered.

KW - 18p deletion

KW - 8p deletion

KW - 8p duplication

KW - genotype–phenotype correlation

KW - miscarriage

KW - NIPT

KW - PGT-SR

KW - prenatal karyotyping

UR - http://www.scopus.com/inward/record.url?scp=85076696235&partnerID=8YFLogxK

U2 - 10.3389/fgene.2019.01164

DO - 10.3389/fgene.2019.01164

M3 - Article

AN - SCOPUS:85076696235

VL - 10

JO - Frontiers in Genetics

JF - Frontiers in Genetics

SN - 1664-8021

M1 - 1164

ER -

ID: 76493789