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

Autor:	Pendina AA; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Shilenkova YV; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Talantova OE; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Efimova OA; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Chiryaeva OG; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Malysheva OV; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Dudkina VS; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Petrova LI; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Serebryakova EA; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Shabanova ES; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Mekina ID; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Komarova EM; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Koltsova AS; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia.; St. Petersburg State University, St. Petersburg, Russia., Tikhonov AV; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Tral TG; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Tolibova GK; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Osinovskaya NS; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Krapivin MI; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia.; St. Petersburg State University, St. Petersburg, Russia., Petrovskaia-Kaminskaia AV; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia.; St. Petersburg State University, St. Petersburg, Russia., Korchak TS; St. Petersburg State Pediatric Medical University, St. Petersburg, Russia., Ivashchenko TE; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Glotov OS; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia.; City Hospital №40, St. Petersburg, Russia., Romanova OV; City Hospital №40, St. Petersburg, Russia., Shikov AE; City Hospital №40, St. Petersburg, Russia., Urazov SP; City Hospital №40, St. Petersburg, Russia., Tsay VV; City Hospital №40, St. Petersburg, Russia., Eismont YA; City Hospital №40, St. Petersburg, Russia., Scherbak SG; St. Petersburg State University, St. Petersburg, Russia.; City Hospital №40, St. Petersburg, Russia., Sagurova YM; St. Petersburg State University, St. Petersburg, Russia., Vashukova ES; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Kozyulina PY; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Dvoynova NM; NIPT LLC, St. Petersburg, Russia., Glotov AS; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia.; St. Petersburg State University, St. Petersburg, Russia., Baranov VS; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia.; St. Petersburg State University, St. Petersburg, Russia., Gzgzyan AM; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Kogan IY; D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia.
Jazyk:	angličtina
Zdroj:	Frontiers in genetics [Front Genet] 2019 Nov 20; Vol. 10, pp. 1164. Date of Electronic Publication: 2019 Nov 20 (Print Publication: 2019).
DOI:	10.3389/fgene.2019.01164
Abstrakt:	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. (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.)
Databáze:	MEDLINE
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