Intragenic duplication of DMRT1 in a SRY-negative boy with 46, XX disorder of sex development

V Bertini, F Baldinotti, N Tyutyusheva, C Rosano… - 2021 - preprints.org
… with 46,XX testicular DSD show a translocation of SRY gene onto one of the X chromosomes
Clinical findings The boy showed normal male phenotype. Height was about one standard …

A rare disorder of sex development; de la chapelle syndrome

MC Şenoymak, İ Engin, NH Erbatur… - DAHUDER Medical …, 2023 - dergipark.org.tr
… paternal X chromosome by YX translocation during meiosis. The presence of the SRY gene
… 11 In 90% of these patients with 46 XX in cytogenetic analysis, the SRY gene is found to be …

Verification of a cryptic t (Y; 15) translocation in a male with an apparent 45, X karyotype

S Qin, X Wang, J Wang, Z Zhang, X Chen, Y Yin… - … Cytogenetics, 2022 - Springer
translocations may have different clinical manifestations according to … or decreased genetic
material or damaged genes. For … SRY gene on autosomes derived from the Yp translocation

[PDF][PDF] An analysis of cytogenetic and clinical phenotype of klinefelter syndrome over 17 years

M Khan, M Moniruzzaman, Z Akhter… - BIRDEM Medical …, 2018 - researchgate.net
… To the best our knowledge, no such study on cytogenetic analysis … study to reveal the
cytogenetic pattern and clinical features of … males also be present and it is occurred by …

Genetic study of sex inversion in humans

S REDOUANE, H HARMAK, L DAFRALLAH… - Moroccan Journal of …, 2022 - revues.imist.ma
clinical signs indicating the presence of DSD. These patients presented to the Cytogenetics
… the short arm of the X chromosome (Xp) and a normal SRY gene with normal genitalia and …

[PDF][PDF] An infertility SRY‑negative 46, XX male detected by quantitative fluorescent polymerase chain reaction

CT Nguyen, NT Kien, VT Nhuan, ND Khoa… - J Clin Case …, 2017 - pdfs.semanticscholar.org
… cyst are the clinical features of male sex reversal syndrome … -a 46, XX male but with no SRY
gene on the X chromosome. … in RSPO1 gene, translocation between chromosome 12 and …

Testicular differentiation in 46, XX DSD: an overview of genetic causes

MTM Ferrari, ESN Silva, MY Nishi, RL Batista… - Frontiers in …, 2024 - frontiersin.org
… This includes translocation of SRY to the X chromosome or an … However, the clinical features
associated with NR2F2 … first identified in the SRY gene, and several genes from the SOX …

High frequency of Y chromosome microdeletions in male infertility patients with 45, X/46, XY mosaicism

L Li, H Zhang, Y Yang, H Zhang, R Wang… - … Journal of Medical …, 2020 - SciELO Brasil
SciELO - Brasil - High frequency of Y chromosome microdeletions in male infertility patients
with 45,X/46,XY mosaicism High frequency of Y chromosome microdeletions in male

Prenatal diagnosis of a 46, XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case …

L Zhytnik, M Peters, K Tilk, T Reimand, P Ilisson… - BMC pregnancy and …, 2022 - Springer
… of sexual development, majority of which are associated with the SRY gene. Case presentation
… phenotype) resulted in the short arm of the Y chromosome (including SRY) translocated

Characteristics and mechanisms of X chromosome translocation

N Huang, J Zhou, W Lu, L Luo, H Yuan, L Pan, S Ding… - 2023 - researchsquare.com
… defects for result of cytogenetically unbalanced pregnancies. The … chromosome translocation
is quite variable. In practice, some individuals appear unremarkable clinical manifestations