46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management
AA Rizvi - The American journal of the medical sciences, 2008 - Elsevier
This report describes a well-masculinized 33-year-old man with infertility and primary
hypogonadism in whom chromosomal evaluation revealed a 46, XX karyotype. This …
hypogonadism in whom chromosomal evaluation revealed a 46, XX karyotype. This …
[HTML][HTML] A 46, XX SRY-negative man with complete virilization and infertility as the main anomaly
A Valetto, V Bertini, E Rapalini, P Simi - Fertility and sterility, 2005 - Elsevier
OBJECTIVE: To report a case of a 46, XX SRY-negative man with a male phenotype and
azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a …
azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a …
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
Abstract 46, XX male sex reversal syndrome is a rare genetic cause of male infertility. We
report on two new cases of this syndrome in men presenting with hypogonadism and …
report on two new cases of this syndrome in men presenting with hypogonadism and …
True hermaphroditism with ambiguous genitalia due to a complicated mosaic karyotype: clinical features, cytogenetic findings, and literature review
D Modan‐Moses, T Litmanovitch… - American Journal of …, 2003 - Wiley Online Library
Abnormal recombination between the X and Y chromosomes during meiosis, occurring
outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y …
outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y …
Molecular analysis of SRY gene in Brazilian 46, XX sex reversed patients: absence of SRY sequence in gonadal tissue.
S Domenice, MY Nishi, AE Billerbeck… - Medical Science …, 2001 - medscimonit.com
BACKGROUND: The importance of the Y chromosome in male determination hasbeen well
established for a long time. The presence of a translocation of chromosomal material …
established for a long time. The presence of a translocation of chromosomal material …
Identification of a novel mutation in the SRY gene in a 46, XY female patient
LB Salehi, O Scarciolla, GF Vanni, AM Nardone… - European journal of …, 2006 - Elsevier
BACKGROUND: The SRY gene encodes for a testis-specific transcription factor (TDF, testis
determining factor) that plays a key role in sexual differentiation and development in males …
determining factor) that plays a key role in sexual differentiation and development in males …
Report of an XX male with hypospadias and pubertal gynecomastia, SRY gene negative in blood leukocytes but SRY gene positive in testicular cells
A Dardis, N Saraco, H Mendilaharzu… - Hormone Research in …, 1997 - karger.com
Most XX male subjects present an anomalous translocation of the sex-determining region of
the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations …
the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations …
46, XX male disorder of sexual development
M Adrião, S Ferreira, RS Silva, M Garcia… - Clinical Pediatric …, 2020 - jstage.jst.go.jp
An individual's sexual phenotype is usually determined by the presence or absence of the Y
chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange …
chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange …
[HTML][HTML] SRY-negative 46, XX infertile male with Leydig cell hyperplasia: clinical, cytogenetic, and molecular analysis and review of the literature
JW Kim, CW Bak, MU Chin, DH Cha, TK Yoon… - Fertility and …, 2010 - Elsevier
OBJECTIVE: To describe a 46, XX male whose infertility is not accounted for by a
translocation of the SRY gene to the X chromosome or to the autosomes. DESIGN: Case …
translocation of the SRY gene to the X chromosome or to the autosomes. DESIGN: Case …
[HTML][HTML] 46, XX, der (15), t (Y; 15)(q12; p11) karyotype in an azoospermic male
ST Onrat, Z Söylemez, M Elmas - Indian Journal of Human Genetics, 2012 - ncbi.nlm.nih.gov
We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter
Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies …
Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies …
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