A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report
| العنوان: | A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report |
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| المؤلفون: | Bérénice Hervé, François Vialard, Elodie Herzog, Marine Poulain, Hela Bellil, Jean-Marc Ayoubi |
| المساهمون: | centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Foch [Suresnes] |
| المصدر: | Journal of Assisted Reproduction and Genetics Journal of Assisted Reproduction and Genetics, Springer Verlag, 2020, 37 (3), pp.573-577. ⟨10.1007/s10815-020-01690-0⟩ J Assist Reprod Genet |
| بيانات النشر: | Springer Science and Business Media LLC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, Offspring, Developmental Disabilities, medicine.medical_treatment, Meiotic arrest, Physiology, Prenatal diagnosis, Chromosome 9, 03 medical and health sciences, Pregnancy, Intellectual Disability, Prenatal Diagnosis, Genetics, Humans, Medicine, Abnormalities, Multiple, Supernumerary, Spermatogenesis, In Situ Hybridization, Fluorescence, Genetics (clinical), 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, Sperm FISH, In vitro fertilisation, Mosaicism, business.industry, 030305 genetics & heredity, Obstetrics and Gynecology, Chromosome, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Oligospermia, General Medicine, Aneuploidy, medicine.disease, Spermatozoa, Phenotype, Reproductive Medicine, Karyotyping, Female, Abnormality, Tetrasomy 9p, Chromosomes, Human, Pair 9, business, Developmental Biology |
| الوصف: | International audience; Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies of the short arm of chromosome 9 and is usually present in a mosaic state postnatally. Depending on the level of mosaicism, the phenotype ranges from mild developmental delay to multiple congenital anomalies with severe intellectual disability. Here, we report on a patient diagnosed with i(9p) mosaicism after the recurrent failure of in vitro fertilization. Although the patient's clinical phenotype was normal, the level of mosaicism varied greatly from one tissue to another. A sperm analysis evidenced subnormal spermatogenesis with chromosomally balanced spermatozoa and no risk of transmission to the offspring. Although individuals with i(9p) and no clinical manifestations have rarely been described, the prenatal diagnosis of this abnormality in the absence of ultrasound findings raises a number of questions. |
| تدمد: | 1573-7330 1058-0468 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::149cea5ccf9c3776680c36a591621c6c https://doi.org/10.1007/s10815-020-01690-0 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....149cea5ccf9c3776680c36a591621c6c |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 15737330 10580468 |
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