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 …
Without SRY, patients with 46, XY karyotype develop as females, fail to achieve normal …
Identification of the short arm of the Y chromosome by cytogenetic and molecular analyses
O Demirhan, MB Yilmaz, N Tanriverdi… - Cytology and …, 2017 - Springer
Isochromosome Y is one of the structural anomalies of the Y chromosome associated with a
45, X cell line and a broad spectrum of phenotypes. We present a case of de novo 46, X,+ …
45, X cell line and a broad spectrum of phenotypes. We present a case of de novo 46, X,+ …
XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene
AS Barbosa, TE Ferraz-Costa, M Semer, B Liberman… - Human genetics, 1995 - Springer
This paper reports a case of XY gonadal dysgenesis in two sisters. Both patients presented
an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder …
an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder …
True hermaphroditism with ambiguous genitalia due to a complicated mosaic karyotype: clinical features, cytogenetic findings, and literature review
D Modan‐Moses, T Litmanovitch… - American Journal of …, 2003 - Wiley Online Library
Abnormal recombination between the X and Y chromosomes during meiosis, occurring
outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y …
outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y …
SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients
S Uehara, T Funato, N Yaegashi, H Suziki… - Cancer genetics and …, 1999 - Elsevier
We report three patients with XY pure gonadal dysgenesis. Two of these patients developed
gonadoblastoma and associated dysgerminoma. Molecular analyses were undertaken to …
gonadoblastoma and associated dysgerminoma. Molecular analyses were undertaken to …
Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads
B Gibbons, SY Tan, CCW Yu… - Journal of paediatrics …, 1999 - Wiley Online Library
We report two female patients with gonadal dysgenesis and sex chromosome mosaicism
involving the Y chromosome. Conventional karyotyping was supplemented with fluorescent …
involving the Y chromosome. Conventional karyotyping was supplemented with fluorescent …
[HTML][HTML] Detailed analysis of an idic (Y)(q11. 21) in a mosaic karyotype
W Al-Achkar, A Wafa, T Liehr… - Molecular …, 2012 - spandidos-publications.com
Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The
phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X …
phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X …
Cytogenetic and clinical notes on a girl with a 46, X, i (Yq) karyotype, HY antigen-negative, and a gonadoblastoma
JM Rary, DK Cummings, HW Jones… - Birth defects …, 1978 - pure.johnshopkins.edu
Isochromosomes for the long arm of the Y chromosome are rare and only a few cases have
been reported in the literature. The isochromosome for the long arm of the Y chromosome …
been reported in the literature. The isochromosome for the long arm of the Y chromosome …
A 46, X, inv (Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies
Cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral
gonadoblastoma shared a male karyotype with a rearranged Y chromosome, interpreted as …
gonadoblastoma shared a male karyotype with a rearranged Y chromosome, interpreted as …
Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion
R Queralt, I Madrigal, MA Vallecillos… - American Journal of …, 2008 - Wiley Online Library
Male individuals with a 46, XX karyotype have been designated as XX males. In 80% of the
cases, the presence of Yp sequences, including the male sex‐determining gene, SRY, has …
cases, the presence of Yp sequences, including the male sex‐determining gene, SRY, has …