[HTML][HTML] A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia
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 …
differentiation in the male and it is essential for the regular development of male genitalia …
The 46, XX male; a chromosomal form of a disorder of sex development
MM Visser, HL Lutgers… - Nederlands Tijdschrift …, 2018 - europepmc.org
A disorder of sex development (abbreviated DSD) is defined as a congenital condition in
which development of chromosomal, gonadal or anatomical sex is atypical. DSD is caused …
which development of chromosomal, gonadal or anatomical sex is atypical. DSD is caused …
[HTML][HTML] A newborn with ambiguous genitalia and a complex X; Y rearrangement
M Dehghani, E Rossi, A Vetro, G Russo… - Iranian journal of …, 2014 - ncbi.nlm.nih.gov
Background: In most mammals, sex is determined at the beginning of gestation by the
constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report …
constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report …
Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development
Ambiguous genitalia or disorder of the sexual development is a birth defect where the
external genitals do not have the typical appearance of either a male or female. Here we …
external genitals do not have the typical appearance of either a male or female. Here we …
[PDF][PDF] COMPLETE SEX REVERSAL: SRY POSITIVE 46, XX MALE BY Y TO X TRANSLOCATION.
C Procopiuc, C Dumitrescu, C Chirita… - Acta Endocrinologica …, 2009 - academia.edu
Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births
with clinical features varying from normal male appearance to sexual ambiguity and …
with clinical features varying from normal male appearance to sexual ambiguity and …
Isodicentric Y (p11. 32) chromosome in an infant with mixed gonadal dysgenesis
D Aktas, M Alikasifoglu, N Gonc, ME Senocak… - European journal of …, 2006 - Elsevier
Among the structural abnormalities affecting the human Y chromosome, dicentric
chromosomes are the most common. A wide spectrum of phenotypes of patients with a …
chromosomes are the most common. A wide spectrum of phenotypes of patients with a …
[PDF][PDF] The crucial role of SRY gene in the determination of human genetic sex: 46, XX disorder of sex development
CC Albu, DF Albu, AR Muşat, IG Stancu, ŞD Albu… - Rom J Morphol …, 2019 - rjme.ro
Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …
46, XX SRY-negative true hermaphrodite siblings
FY Dorsey, MH Hsieh, DR Roth - Urology, 2009 - Elsevier
The sex-determining region on the Y chromosome (SRY) gene guides male sexual
development. However, individuals with sex reversal syndrome (46, XX males and 46, XX …
development. However, individuals with sex reversal syndrome (46, XX males and 46, XX …
A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report
S Bilen, A Okten, G Karaguzel, M Ikbal… - Genetic …, 2013 - search.proquest.com
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 …
extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X …
Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases
X Liu, Z Zhang, X Zhang, J Wang, J Jiang… - Prenatal …, 2024 - Wiley Online Library
Background Generally, the translocation of SRY onto one of the X chromosomes leads to 46,
XX testicular disorders of sex development, a relatively rare condition characterized by the …
XX testicular disorders of sex development, a relatively rare condition characterized by the …