[HTML][HTML] A Rare 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 …

A Clement, T Dominot, J Chammas, M Montagnon… - Genes, 2022 - mdpi.com
Infertility affects about 15% of couples of childbearing age. About half of these cases can be
attributed predominantly to a male factor, such as a quantitative or qualitative impairment in …

An offbeat presentation of primary male infertility: de la Chapelle syndrome

A Saraswat, N Nagaraja, BK Chakrabarty… - Medical Journal Armed …, 2023 - Elsevier
Abstract In 20-30% cases of infertility, a primary defect is found in the male partner and
contribute to 50% of patients overall. Studies have shown that the prevalence of both …

A rare disorder of sex development; de la chapelle syndrome

MC Şenoymak, İ Engin, NH Erbatur… - DAHUDER Medical …, 2023 - dergipark.org.tr
Sex reversal syndromes can be summarized as an incompatibility of chromosomal sex and
gonadal characteristics. A very rare syndrome. 46 XX testicular disorder was first described …

[HTML][HTML] 46,XX males with SRY gene translocation: cytogenetics and molecular characterization

L Rawal, S Prabhash, R Kumar, G Sharma… - Journal of Rare …, 2024 - Springer
Purpose XX male syndrome also known as De la Chapelle syndrome/Testicular Disorder of
Sex Development (DSD) is a rare genetic abnormality, identified by a partial or complete …

[PDF][PDF] Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report

CE Pepene, I Coman, D Mihu, M Militaru… - Clin Exp Obstet …, 2008 - researchgate.net
The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex
development) is a rare form of sex reversal with complex mechanisms leading to a large …

Self-diagnosis of De la Chapelle syndrome

S Ahmad, R Ravindran, A Lansdown - Endocrine Abstracts, 2019 - endocrine-abstracts.org
Case history: A 30 years old male Caucasian had his saliva tested on a self-funded
commercial DNA testing to identify his ancestral roots. The markers for Y chromosome were …

[HTML][HTML] A rare presentation of disorder of sex development

S Ashfaq, A Siddiqui, W Shafiq, U Azmat - Cureus, 2021 - ncbi.nlm.nih.gov
Disorder of sex development (DSD) is the term ascribed to a wide group of disorders
presenting with congenital discord between chromosomal sex and phenotypic …

De La Chapelle Syndrome: A rare case of male infertility

R Rajput, D Jain, S Vohra… - Journal of the …, 2016 - asean-endocrinejournal.org
A 25-year-old Indian male presented to Endocrine Outpatient Department of PGIMS Rohtak
with chief complaints of inability to father a child in spite of 2 years of unprotected sexual …

[HTML][HTML] Non-obstructive azoospermia and maturation arrest with complex translocation 46, XY t (9; 13; 14)(p22; q21. 2; p13) is consistent with the Luciani-Guo …

ES Sills, JJ Kim, MA Witt, GD Palermo - Cell & chromosome, 2005 - Springer
Objective To describe clinical and histological features observed in the setting of an unusual
complex translocation involving three autosomes (9, 13, and 14) identified in an otherwise …

Chromosomal abnormalities in 2 cases of testicular failure

X Chen, G Raca, J Laffin, KN Babaian… - Journal of …, 2011 - Wiley Online Library
This study investigated the underlying chromosomal abnormalities of testicular failure using
molecular cytogenetic analysis. We report 2 cases of rare genetic anomalies that resulted in …