Non-mosaic X monosomy (77,X) in a female dog with signs of virilization

被引:0
|
作者
Izabela Szczerbal
Emilian Malek
Antonella Rigillo
Anna Lukomska
Kamil Kacprzak
Stefania Gasparini
Joanna Nowacka-Woszuk
Monika Stachowiak
Mehmet O. Aksoy
Marek Switonski
机构
[1] Poznan University of Life Sciences,Department of Genetics and Animal Breeding
[2] Poznan University of Life Sciences,Department of Preclinical Sciences and Infectious Diseases
[3] San Marco Veterinary Clinic and Laboratory,Pathology Division
[4] Warsaw University of Life Sciences,Department of Small Animal Diseases and Clinic, Institute of Veterinary Medicine
[5] SFORA Veterinary Clinic,undefined
来源
关键词
Aneuploidy; Disorders of sex development; Intersexuality; Sex chromosomes;
D O I
暂无
中图分类号
学科分类号
摘要
A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and genetic studies. Macroscopically, the uterus and fallopian tubes appeared normal, while both ovaries were diffusely altered. At histology, the ovarian parenchyma was almost completely effaced by a diffuse hyperplasia of theca cells with atretic primary follicles. Chromosome analysis showed pure (non-mosaic) X monosomy (77,X). This finding was confirmed by the highly sensitive droplet digital PCR (ddPCR) approach. Despite the observed virilization, molecular analysis did not show the presence of Y-linked genes (SRY, ZFY, and TSPY1) in the blood cells or ovary tissue. To the best of our knowledge, this is the first case of X monosomy in a dog associated with virilization.
引用
收藏
页码:169 / 172
页数:3
相关论文
共 50 条
  • [21] Spontaneous cerebral haemorrhage without hypertension in non-mosaic 45X Turner's syndrome
    Finsterer, J
    Zartl, M
    Samec, P
    JOURNAL OF CLINICAL NEUROSCIENCE, 2000, 7 (04) : 341 - 343
  • [22] A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysis
    Jakub Cieslak
    Mariusz Mackowski
    Weronika Skrzetuska
    Ewa Fidos-Tama
    Natalia Siwinska
    Izabela Szczerbal
    Journal of Applied Genetics, 2024, 65 : 395 - 398
  • [23] Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review
    Tanoshima, Miki
    Tanoshima, Reo
    Takase, Hajime
    Yamamoto, Daisuke
    Aoki, Shigeru
    Sakakibara, Hideya
    Miyagi, Etsuko
    CONGENITAL ANOMALIES, 2025, 65 (01)
  • [24] X-chromosome monosomy in an infertile female llama
    Hinrichs, K
    Horin, SE
    Buoen, LC
    Zhang, TQ
    Ruth, GR
    JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION, 1997, 210 (10) : 1503 - &
  • [25] A case with non-mosaic de novo monosomy Xp and trisomy Xq21.2→Xqter:: paternal in origin
    Yilmaz, K.
    Karaman, B.
    Uzumcu, A.
    Kocbas, A.
    Kirmizi, N.
    Demir, Z.
    Uyguner, O.
    Kayserili, H.
    Basaran, S.
    CHROMOSOME RESEARCH, 2007, 15 : 50 - 50
  • [26] PROLONGED PROESTRUS IN A BITCH WITH X-CHROMOSOMAL MONOSOMY (77,XO)
    LOFSTEDT, RM
    BUOEN, LC
    WEBER, AF
    JOHNSTON, SD
    HUNTINGTON, A
    CONCANNON, PW
    JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION, 1992, 200 (08) : 1104 - 1106
  • [27] XO/X ISOCHROMOSOME-X MOSAIC IN A HUMAN FEMALE
    LEWIS, FJW
    MARRIAN, V
    ANNALS OF HUMAN GENETICS, 1964, 27 (04) : 432 - 433
  • [28] High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam
    Tran, Danh Cuong
    Nguyen, Thanh-Thanh Thi
    Hoang, Ngoc-Lan Thi
    Luong, Lan-Anh Thi
    Doan, Kim-Phuong Thi
    Ha, Minh Thi Thi
    Tran, Nhat-Thang
    Nguyen, Van-Thong
    Trinh, Thu-Huong Nhat
    Nguyen, Ngoc-Trinh Kieu
    Nguyen, Cong-Trai
    Nguyen, Thanh-Dat
    Nguyen, XQuynh-Tho Thi
    Do, Thanh-Thuy Thi
    Truong, Dinh-Kiet
    Giang, Hoa
    Nguyen, Hoai-Nghia
    Tang, Hung-Sang
    Phan, Minh-Duy
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2023, 36 (01):
  • [29] X-CHROMOSOMAL MONOSOMY (77,X0) IN A DOBERMAN PINSCHER WITH GONADAL-DYSGENESIS
    SMITH, FWK
    BUOEN, LC
    WEBER, AF
    JOHNSTON, SD
    RANDOLPH, JF
    WATERS, DJ
    JOURNAL OF VETERINARY INTERNAL MEDICINE, 1989, 3 (02) : 90 - 95
  • [30] Clinical outcomes of 77 testicular sperm extraction treatment cycles in non-mosaic Klinefelter syndrome patients
    Barros, P.
    Cunha, M.
    Barros, A.
    Doria, S.
    Sousa, M.
    HUMAN REPRODUCTION, 2021, 36 : 154 - 155