SRY gene-testing in the diagnosis of disorders of sex development among children

PX Xiang, X Dai, P Leng, L Liu, XJ Hu - Zhongguo Dang dai er ke za …, 2013 - europepmc.org
Objective To investigate the value of direct sequencing of sex-determining region Y (SRY)
gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex …

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 …

Localization of SRY by primed in situ labeling in XX and XY sex reversal

JS Kadandale, SS Wachtel, Y Tunca… - American journal of …, 2000 - Wiley Online Library
Primed in situ labeling (PRINS) can be used to localize DNA segments too small to be
detected by fluorescence in situ hybridization. By PRINS we identified the SRY gene in two …

[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 …

A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia

M Ellaithi, D Gisselsson, T Nilsson, S Abd El-Fatah… - BMC pediatrics, 2006 - Springer
Background SRY (sex-determining region, Y) is the gene responsible of gonadal
differentiation in the male and it is essential for the regular development of male genitalia …

Sex chromosome mosaicism in gonads of a fetus with cystic hygroma and deletion of the short arm of Y chromosome including loss of SRY

H Aviv, D Heller, A Fajardo, A Hoot… - American journal of …, 2001 - Wiley Online Library
The SRY gene on the short arm of the Y chromosome is necessary for male development.
Without SRY, patients with 46, XY karyotype develop as females, fail to achieve normal …

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
Sex reversal syndrome is a kind of human genetic disease about gender dysplasia, which is
characterised by inconsistency between gonadal sexuality and chromosome sexuality; the …

SRY protein is expressed in ovotestis and streak gonads from human sex-reversal

L Salas-Cortés, F Jaubert, C Nihoul-Feketé… - Cytogenetics and cell …, 2000 - karger.com
In mammals, a master gene located on the Y chromosome, the testis-determining gene SRY,
controls sex determination. SRY protein is expressed in the genital ridge before testis …

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46, XY female

J Müller, M Schwartz… - The Journal of Clinical …, 1992 - academic.oup.com
The first and essential step in normal sexual differentiation takes place during the 5th-6th
week of gestation. The testis determining factor (TDF) directs the undifferentiated gonad into …

SRY gene expression in the ovotestes of XX true hermaphrodites

J Ortenberg, C Oddoux, R Craver, K Mcelreavey… - The Journal of …, 2002 - Elsevier
PURPOSE: The pathogenesis of 46 XX true hermaphroditism is uncertain and the role of the
SRY gene in ovotestis development has not been thoroughly evaluated. We ascertained the …