Cytogenetic spectrum of ovotesticular difference of sex development (OT DSD) among a large cohort of DSD patients and literature review
MK Mekkawy, AK Kamel, N Dessouky… - Sexual …, 2020 - karger.com
Ovotesticular difference of sex development (OT DSD) is a rare genetic disorder with an
incidence of about 1/100,000 live births. The majority of OT DSD patients show a 46, XX …
incidence of about 1/100,000 live births. The majority of OT DSD patients show a 46, XX …
Genomic technologies and the diagnosis of 46, XY differences of sex development
F Idris, AH Sinclair, KL Ayers - Andrology, 2024 - Wiley Online Library
Differences/disorders of sex development can be caused by disruptions to the molecular
and cellular mechanisms that control development and sex determination of the …
and cellular mechanisms that control development and sex determination of the …
Screening of Y chromosome microdeletions in 46, XY partial gonadal dysgenesis and in patients with a 45, X/46, XY karyotype or its variants
AP dos Santos, JG Ribeiro Andrade, CSC Piveta… - BMC Medical …, 2013 - Springer
Background Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by
genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two …
genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two …
Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
Y Yang, W Hao - Molecular Cytogenetics, 2019 - Springer
Background Isodicentric Y chromosomes [idic (Y)] are one of the most common structural
abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes …
abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes …
A mosaic karyotype of 45, X/46, X, psu idic (Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and …
H Yin, H Xie, J Zou, X Ye, Y Liu, C He, S Shangguan… - BMC pediatrics, 2023 - Springer
Background Isodicentric Y chromosome (idic (Y)) is the most commonly reported aberration
of the human Y chromosome, which is an important cause of abnormal sexual development …
of the human Y chromosome, which is an important cause of abnormal sexual development …
Sex chromosome mosaicism in the gonads of DSD patients: a karyotype/phenotype correlation
AK Kamel, A El-Ghany, M Hoda, MK Mekkawy… - Sexual …, 2016 - karger.com
Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual
development (DSD). The percentage of 45, X cells in the developing gonad plays a major …
development (DSD). The percentage of 45, X cells in the developing gonad plays a major …
[HTML][HTML] Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using …
H Xue, X Chen, M Lin, N Lin, H Huang, A Yu… - Aging (Albany NY …, 2021 - ncbi.nlm.nih.gov
Small supernumerary marker chromosomes cannot be accurately identified by G-banding,
and the related phenotypes vary greatly. It is essential to specify the origin, size, and gene …
and the related phenotypes vary greatly. It is essential to specify the origin, size, and gene …
Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes
Y Liu, L Guo, H Chen, J Lu, J Hu, X Li, X Li… - Molecular …, 2019 - Springer
Background Isodicentric chromosomes are the most frequent structural aberrations of
human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several …
human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several …
Isodicentric Y mosaicism involving a 46, XX cell line: implications for management
LE Hipp, LH Mohnach, S Wei… - American Journal of …, 2016 - Wiley Online Library
Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features,
including short stature, gonadal abnormalities, and external genital anomalies. However, the …
including short stature, gonadal abnormalities, and external genital anomalies. However, the …
Clinical and cytogenomic studies in a case of infertility associated with a nonmosaic dicentric Y chromosome
YX Cui, WP Wang, TF Li, WW Li, QY Wu, N Li… - Andrologia, 2015 - Wiley Online Library
In this study, a short stature male with infertility is reported. Semen analysis and serum
concentrations of FSH, LH, T and PRL were estimated. Chromosome analysis was …
concentrations of FSH, LH, T and PRL were estimated. Chromosome analysis was …