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Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound.
Pinhas-Hamiel O, Zalel Y, Smith E, Mazkereth R, Aviram A, Lipitz S, Achiron R. Pinhas-Hamiel O, et al. J Clin Endocrinol Metab. 2002 Oct;87(10):4547-53. doi: 10.1210/jc.2001-011034. J Clin Endocrinol Metab. 2002. PMID: 12364433
Over a 5-yr period all cases suspected of sexual ambiguity based on abnormal ultrasonographic scans (US) or US/genotype US discrepancy were evaluated prenatally by three modalities: 1) repeated fetal US; 2) genetic studies, primarily karyotype and fluorescence in situ hybr …
Over a 5-yr period all cases suspected of sexual ambiguity based on abnormal ultrasonographic scans (US) or US/genotype US discrepancy were …
Primary amenorrhoea - cytogenetic study in 40 Indian women.
Banerjee B, Dutta A, Roy S, Halder A. Banerjee B, et al. J Obstet Gynaecol. 2024 Dec;44(1):2348085. doi: 10.1080/01443615.2024.2348085. Epub 2024 May 6. J Obstet Gynaecol. 2024. PMID: 38708796 Free article.
RESULT: Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in 2.5% (n = 1). ...A study conducted from January 2021 to May 2023 at Nirnayan Healthcare, Kolkata aimed to evaluate chromosomal abnorm …
RESULT: Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in …
Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.
Chiang HS, Wu YN, Wu CC, Hwang JL. Chiang HS, et al. J Formos Med Assoc. 2013 Feb;112(2):72-8. doi: 10.1016/j.jfma.2012.02.009. Epub 2012 Aug 30. J Formos Med Assoc. 2013. PMID: 23380608 Free article.
One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic hybridization array and real-time polymerase chain reaction, showed a gain of FGF9 copy numbers only in the SRY-negative 46,XX
One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic …