Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients

E Vorona, M Zitzmann, J Gromoll… - … Journal of Clinical …, 2007 - academic.oup.com
… males, possibly due to the translocated SRY gene. The … The age of the female control group
matched our male … Because in most cases cytogenetic and molecular genetic analyses have …

Clinical and genetic analysis in males with 46, XX disorders of sex development: A reproductive centre experience of 144 cases

T Chen, L Tian, F Wu, X Xuan, G Ma, R Tang, J Lu - Andrologia, 2019 - Wiley Online Library
… of 46,XX males with testicular DSD, X;Y translocations are … -demographic characteristics,
clinical presentations, laboratory … of quality control, the detection of microdeletions on SRY gene

46, XX male sex reversal syndrome: a case report and review of the genetic basis

T Wang, JH Liu, J Yang, J Chen, ZQ Ye - Andrologia, 2009 - Wiley Online Library
SRY gene and 46, XX male SRS through the assaying of … SRY gene, however, only to find
it translocated in the X-… , and the clinical manifestations of some of the 46, XX male patients …

A 46, XX karyotype in men with infertility: Two new cases and review of the literature

E Kouvidi, H Tsimela, L Lazaros… - Journal of Human …, 2022 - journals.lww.com
… ] In 46,XX SRY-positive patients, SRY is usually translocated … [ 7 12 ] The main clinical
features of the syndrome are … X chromosomes and (b) revealed the presence of SRY gene. …

Two males with SRY-positive 46, XX testicular disorder of sex development

S Gunes, R Asci, G Okten, F Atac, OE Onat… - Systems biology in …, 2013 - Taylor & Francis
… (FISH) showed the SRY region translocated to the short arm of the X … Table I presents the
clinical findings of both patients. … three XX males with SRY gene at the end of the short arm of …

[PDF][PDF] 46, XX male disorder of sexual development: a case report

A Anık, G Çatlı, A Abacı, E Böber - … clinical research in pediatric …, 2013 - jag.journalagent.com
… Although clinical signs may be heterogeneous, external … Nevertheless, Y translocation
including SRY gene has been … Clinical, hormonal and cytogenetic evaluation of 46,XX males and …

Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome

J Chen, M Guo, M Luo, S Deng… - Gynecological …, 2021 - Taylor & Francis
… -, forming a ring X (Xr) or translocation; (2) 45,X chimera with a … observed in any of the clinical
features between the TS patients … were tested for the SRY gene, and 10 were SRY positive. …

[PDF][PDF] A CASE OF 46, XX TESTICULAR DISORDER OF SEX DEVELOPMENT: CLINICAL, MOLECULAR AND CYTOGENETIC STUDIES.

DD Draganescu, M Militaru, A Trifa - Acta Endocrinologica (1841-0987 …, 2015 - acta-endo.ro
… The case we report is a SRY positive 46,XX male with complete … analyses, caused by an
X/Y chromosome inter-change during … translocation of the SRY gene from Y to X chromosome. …

[PDF][PDF] The crucial role of SRY gene in the determination of human genetic sex: 46, XX disorder of sex development

CC Albu, DF Albu, AR Muşat, IG Stancu, ŞD Albu… - Rom J Morphol …, 2019 - rjme.ro
… and management of a fetus with SRY-positive 46,XX testicular … cytogenetic aspects of a fetus
diagnosed with SRYpositive 46,… of SRY-positive 46,XX testicular DSD is a translocation of a …

Clinical traits and molecular findings in 46, XX males

M López, L Torres, JP Méndez, A Cervantes… - … genetics, 1995 - Wiley Online Library
translocation of the testis-determining factor (TDF) from the Y to the … the Y chromosome plays
an essential role, as it carries the controlCytogenetic studies in the six phenotypically male