The 46, XX karyotype in a male is a rare sex chromo somal disorder. It mostly results from
unequal crossovers between the X and Y chromosomes during meiosis. We here report a 32 …

The main factor influencing the sex determination of an embryo is the genetic sex
determined by the presence or absence of the Y chromosome. However, some individuals …

A candidate gene for sex determination was localized within a 35 kb region of the Y
chromosome immediately adjacent to the pseudoautosomal boundary. Here, we describe a …

Objective To carry out genetic testing for a XXY fetus suggested by non-invasive prenatal
testing (NIPT). Methods G-banding karyotyping, fluorescence in situ hybridization (FISH) and …

Context: Differentiation of testicular tissue in 46, XX individuals is seen either in XX males,
the majority of them with SRY gene, or in individuals, usually SRY (−), with ovotesticular …

Stoppa‐Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J‐M, Deladoëy J,
Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two …

What's already known about this topic? Cell‐free fetal DNA testing is commonly used as a
noninvasive method of determing fetal sex. Presence of sex‐determining region Y (SRY) on …

Here we present a male newborn with multiple congenital anomalies who also has an
extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X …

XX maleness is a rare syndrome with a frequency of 1 in 20 000–25 000 males. XX males
exist in different clinical categories with ambiguous genitalia or partially to fully mature male …

Southern blot hybridization using Y-specific DNA probes and electrophoretic analysis of the
SRY gene fragment amplified through polymerase chain reaction (PCR) have been …