Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman
I Al-Alawi, TM Goud, S Al-Harasi, A Rajab - Reproductive biomedicine …, 2016 - Elsevier
… grouped according to the clinical features and referral reasons, … region (SRY) translocated
into the X chromosome. It is … disorders of sex development, including SRY gene testing and Y …
into the X chromosome. It is … disorders of sex development, including SRY gene testing and Y …
[引用][C] Clinical cytogenetics
M Militaru, V Pop, D Coprean, RA Popp, M Militaru - Rev. Med. Chil, 1997
Diagnosis and management of non-CAH 46, XX disorders/differences in sex development
Z Yavas Abalı, T Guran - Frontiers in Endocrinology, 2024 - frontiersin.org
… Information on SRY gene expression and 170H-Progesterone … To date, many cases with
variable clinical presentations have been … Translocation of SRY to the X chromosome causes …
variable clinical presentations have been … Translocation of SRY to the X chromosome causes …
46, XX disorder of sexual development associated with mixed germ cell tumor of the prostate: a rare case report
C Wang, J Du, X Xiang, Y Wang, J Xiang, Q Xu - BMC urology, 2024 - Springer
… 46, XX DSD are caused by a translocation of a segment of the Y chromosome that carries
the SRY gene … The clinical presentation of 46, XX DSD varies depending on the presence of …
the SRY gene … The clinical presentation of 46, XX DSD varies depending on the presence of …
A minority of 46, XX true hermaphrodites are positive for the Y-DNA sequence including SRY
K McElreavey, R Rappaport, E Vilain, N Abbas… - Human genetics, 1992 - Springer
… The size and signal intensity of the bands were the same as in a normal male control. The
… In all three 46,XX true hermaphrodites, the translocated region contains at least 30kb, but no …
… In all three 46,XX true hermaphrodites, the translocated region contains at least 30kb, but no …
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46, XY pure gonadal dysgenesis
R Kellermayer, L Halvax, M Czakó… - Diagnostic Molecular …, 2005 - journals.lww.com
… In light of the clinical picture and the genetic evaluation, the … translocation of this gene
sequence gives rise to 45,X males, … with Turner's syndrome: A cytogenetic and molecular analysis. …
sequence gives rise to 45,X males, … with Turner's syndrome: A cytogenetic and molecular analysis. …
46, XX/46, XY chimerism & human sexual development
J Tate, B O'Hara, S Wei - OBM Genetics, 2022 - lidsen.com
… AMH, that the SRY gene was successfully cloned and … that translocations involving this
region of the Y chromosome … and clinical findings, endocrine testing, and cytogenetic testing are …
region of the Y chromosome … and clinical findings, endocrine testing, and cytogenetic testing are …
Prenatal diagnosis of sex chromosome abnormalities
JM Milunsky - … the fetus: Diagnosis, prevention, and treatment, 2015 - Wiley Online Library
… the key clinical features and anticipated management issues. … Only a few cases of 46 X,i(Yp)
have been reported,369, 370 … of 46,XX males do not have the SRY gene translocated, and …
have been reported,369, 370 … of 46,XX males do not have the SRY gene translocated, and …
[HTML][HTML] Disorders of sex development: Genetic characterization of a patient cohort
M García-Acero, O Moreno-Niño… - Molecular …, 2020 - spandidos-publications.com
… cytogenetics using fluorescence in situ hybridization (FISH) was performed with a probe specific
for the SRY gene (SRY … following: A SRY probe, labelled in red; a control probe for the X …
for the SRY gene (SRY … following: A SRY probe, labelled in red; a control probe for the X …
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
… , majority of which are associated with the SRY gene. … importance not only for disease
management, reducing health risks, … of the Y chromosome (including SRY) translocated onto the …
management, reducing health risks, … of the Y chromosome (including SRY) translocated onto the …