Zobrazeno 1 - 10
of 165
pro vyhledávání: '"XY karyotype"'
Autor:
L. Montenegro, I. Costa, L. Maltez, V. Evaristo, I. R. Dias, C. Martins, I. Borges, F. Morinha, R. Pereira, N. Neto, C. Oliveira, A. Martins-Bessa
Publikováno v:
BMC Veterinary Research, Vol 20, Iss 1, Pp 1-8 (2024)
Abstract Background Sex chromosome abnormalities associated with disorders of sexual development (DSD) are rarely described in cats, mainly due to the lack of chromossome studies that precisely reveal the condition. Genetic approaches are therefore r
Externí odkaz:
https://doaj.org/article/b5ac415c584740eeb1676d99b1735600
Autor:
Ken Maekawa, Yousuke Shimizu, Koken Hayashi, Shotaro Hatano, Yasuyuki Miyauchi, Takaki Sakurai, Kenji Mitsumori, Hiroyuki Onishi
Publikováno v:
IJU Case Reports, Vol 7, Iss 4, Pp 329-332 (2024)
Introduction 17α‐Hydroxylase deficiency is a very rare disease reported to be associated with a risk of gonadal malignancy. We herein report a rare case of seminoma in a 46, XY patient with 17α‐hydroxylase deficiency. Case presentation A 52‐y
Externí odkaz:
https://doaj.org/article/9ff05420ac7a455f8f5c800014c36747
Autor:
Qaisar Ali Khan, Faiza Amatul‐Hadi, Amritpal Kooner, Amber Lee, Rahma Ahmed, Adithya Nadella, Harshawardhan Pande, Yaxel Levin‐Carrion, Muhammad Afzal, Moses Alfaro
Publikováno v:
Clinical Case Reports, Vol 11, Iss 11, Pp n/a-n/a (2023)
Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia. Further studies are needed to conclude the relationship between Jacobs syndrome and congenit
Externí odkaz:
https://doaj.org/article/b2d652430b0246a2900faa10825683a9
Akademický článek
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Akademický článek
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Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 4, Pp 1427-1432 (2020)
Sex identification of ancient animal biological remains can benefit our understanding of historical population structure, demography and social behavior. Traditional methods for sex identification (e.g., osteological and morphometric comparisons) may
Externí odkaz:
https://doaj.org/article/5b599c6660c745209f2313b2ccfc8803
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
Introduction: Iatrogenic factor is one of the recognized causes for premature ovarian insufficiency. The aim of this case report was to present a rare case with premature ovarian insufficiency and 46, XY karyotype after bone marrow transplant (BMT) f
Externí odkaz:
https://doaj.org/article/e226a3f72a0d42ebbb3cc1ae42a3ed40
Autor:
Bhati Meenal, Gothwal Meenakshi, Singh Pratibha, Yadav Garima, Kathuria Priyanka, Elhence Poonam
Publikováno v:
Gynecology and Minimally Invasive Therapy, Vol 10, Iss 3, Pp 171-173 (2021)
Ovotesticular disorder represents 10% of cases of disorder of sex development characterized by the presence of both ovarian and testicular tissue in the same individual, with karyotype 46 XY being a rare sex chromosomal abnormality. We report the cas
Externí odkaz:
https://doaj.org/article/b6f3b5f97c674dcb9e2a86f838adea3f
Autor:
Radha Ramadevi Akella
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 21, Iss 4, Pp 520-523 (2017)
Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone. Subjects and Methods: Genetic studies were carried out in two fa
Externí odkaz:
https://doaj.org/article/5a19aa4510da4c66bedc2e2a950e545c
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Human Genome Variation
Human Genome Variation
An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba8a9834ad71ac2c455449600b55e89
https://doaj.org/article/d27d38fa652144648fa0c4aa5eddbef3
https://doaj.org/article/d27d38fa652144648fa0c4aa5eddbef3