Disorders of sex development: effect of molecular diagnostics
Disorders of sex development (DSDs) are a diverse group of conditions that can be
challenging to diagnose accurately using standard phenotypic and biochemical …
challenging to diagnose accurately using standard phenotypic and biochemical …
The quiet revolution
IA Hughes - Best Practice & Research Clinical Endocrinology & …, 2010 - Elsevier
The approach to the management of disorders of sex development (DSD) has undergone
major changes in recent years. The catalyst has been a revised nomenclature, new …
major changes in recent years. The catalyst has been a revised nomenclature, new …
[HTML][HTML] Prenatal diagnosis of a 46, XX male following noninvasive prenatal testing
N Mansfield, T Boogert, A McLennan - Clinical Case Reports, 2015 - ncbi.nlm.nih.gov
Materials and Methods High-molecular weight DNA was extracted from 15 mL of amniotic
fluid, using the Promega Wizard Genomic DNA Purification Kit (Madison, WI, USA). A …
fluid, using the Promega Wizard Genomic DNA Purification Kit (Madison, WI, USA). A …
Detection of SRY‐positive46, XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing
L De Falco, G Savarese, T Suero… - Clinical Case …, 2019 - Wiley Online Library
We report a new case of 46, XX male syndrome that was detected following an anomalous
result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal …
result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal …
性逆转综合征研究进展
赵保静， 丛林 - 国际生殖健康/计划生育杂志, 2011 - cqvip.com
性逆转综合征是一种性分化异常疾病. 患者染色体核型和性表型相反, 包括46, XX 男性和46, XY
女性2 型. 其发生机制包括Yp-Xp 末端易位, 性染色体和常染色体易位, 存在未能检出的XX/XY …
女性2 型. 其发生机制包括Yp-Xp 末端易位, 性染色体和常染色体易位, 存在未能检出的XX/XY …
ВЫЯВЛЕНИЕ МАРКЕРА Y-ХРОМОСОМЫ В ПЛАЗМЕ БЕРЕМЕННЫХ ЖЕНЩИН МЕТОДОМ ПЦР В РЕАЛЬНОМ ВРЕМЕНИ: ДИАГНОСТИЧЕСКАЯ ТОЧНОСТЬ …
СИ КОШЕЧКИН, ГВ ШЕВЧЕНКО, СГ МАРДАНЛЫ… - 2022 - elibrary.ru
Проведена оценка клинической информативности теста на выявление маркёра Y-
хромосомы в плазме беременной женщины на разных сроках беременности методом …
хромосомы в плазме беременной женщины на разных сроках беременности методом …
46, XX 男性综合征误诊1 例分析并文献复习
张正果， 陈斌， 杨昊， 胡凯， 王益鑫， 黄翼然 - 中国误诊学杂志, 2010 - cqvip.com
目的46, XX 男性综合的临床表现及误诊原因分析, 探讨男性性别决定及分子遗传学基础.
方法分析一例46, XX 男性综合征(SRY 阳性) 患者的临床表现及实验室, 细胞及分子遗传学检查 …
方法分析一例46, XX 男性综合征(SRY 阳性) 患者的临床表现及实验室, 细胞及分子遗传学检查 …
Prenatal diagnosis of disorders of sexual development: A practical guide to initial management after prenatal diagnosis
RK Casey, V Gomez-Lobo - Topics in Obstetrics & Gynecology, 2015 - journals.lww.com
2 after evaluation because of a known family history. 6 Diagnosis of DSD on the basis of
incidental ultrasonographic findings alone or a sex discrepancy between amniocentesis or …
incidental ultrasonographic findings alone or a sex discrepancy between amniocentesis or …
Prenatal and Postnatal Urologic Emergencies
F Ferrer, PH McKenna - The Kelalis--King--Belman Textbook of …, 2018 - taylorfrancis.com
The widespread availability of accurate imaging and genetic screening, and the active
participation of pediatric urologists in a multidisciplinary approach to urologic problems have …
participation of pediatric urologists in a multidisciplinary approach to urologic problems have …