[HTML][HTML] An approach to the management and care of an individual with 46, XX ovotesticular disorder of sexual differentiation

MAB de Castro-Abesamis… - Philippine Journal of …, 2023 - journals.lww.com
… [ 1 ] The clinical presentation among patients is greatly varied… elements in individuals with
46, XX is more complex and has … Y chromosome, (2) translocation of the SRY gene to the X

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

I Mazen, M Mekkawy, A Kamel… - … of Medical Genetics …, 2021 - Wiley Online Library
… analysis to have the SRY gene translocated to the distal part … The clinical manifestations
of DSD are heterogenous, and … center for cytogenetic studies in Egypt. A wide range of sex …

[HTML][HTML] Chromosome abnormalities related to reproductive and sexual development disorders: a 5-year retrospective study

S Benchikh, A Bousfiha, L Razoki… - BioMed Research …, 2021 - hindawi.com
Translocations between the Y chromosome and an X can … medical attention since it is not
associated with clinical signs of … the SRY gene is essential for the formation of the male pheno…

[HTML][HTML] Disorders of sexual development in 46, XX individuals: an update

M Guerra, C Céspedes, C Forero… - Revista mexicana de …, 2021 - scielo.org.mx
… and clinical manifestations of this class of clinical conditions will … The SRY gene has been
detected in one-third of patients … SRY would result from translocation of the gene to one of the …

[HTML][HTML] … Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45, X Cell Line:(46, X, psu dic (X; Y)(p22. 13; q11. 221)/45, X/45, psu dic (X …

A Clement, T Dominot, J Chammas, M Montagnon… - Genes, 2022 - mdpi.com
… unbalanced translocation between the X and Y chromosome … the diagnosis with conventional
cytogenetic analysis using G … with the SRY gene, which probably explains the normal male

[HTML][HTML] 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 …

[HTML][HTML] A Rare Case of 45, X/46, X, del (Y)(q12→ qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion

SKJK Patel, R Kabir, R Nayak, I Palo… - … of Reproduction & …, 2023 - ncbi.nlm.nih.gov
… molecular and cytogenetic analysis of an infertile male was … long arm of Y chromosome and
robertsonian translocation. Y-… (SRY), zinc finger protein, and Y linked gene (ZFY) as control. …

[HTML][HTML] A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der (Y) t (Y; 14)

VI Romero, JC Pozo, S Saenz… - Human genome …, 2020 - nature.com
Clinical presentation is variable, depending on the degree of … the SRY gene and AZF region
being intact. In FISH, a whole … ,X/46,X,der(Y)t(Y;14)(p11.32;q12) is a de novo translocation in …

[HTML][HTML] Clinical investigation of the primary and secondary amenorrhea by cytogenetic analysis

BF Bai, C Padhiar, SP Rao, A Sujithra… - Journal of Applied …, 2022 - jabonline.in
… associated with a mutation in the SRY gene and as a result, … identified with Robertsonian
translocation showed delayed … or clinical features of PA should be referred for genetic study […

[HTML][HTML] Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats

M Stachowiak, I Szczerbal, J Nowacka-Woszuk… - Scientific Reports, 2022 - nature.com
… of the translocated region from the Y to the X chromosome, … of the SRY gene copy number
in all XY DSD cats and control … , but in males their clinical manifestations usually do not involve …