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    Glossary Karyotype

    visual display of an individual's chromosome pairs

    A karyotype is a visual representation of an individual's complete set of chromosomes, arranged in pairs and ordered by size. It is used to detect genetic abnormalities, such as extra or missing chromosomes, which can be linked to conditions like Down syndrome or certain types of alopecia.

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    Research 30 of 310

    1. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    2. Current evaluation of amenorrhea Fertility and Sterility · 2006 · 38 citations
    3. Human Adipose-Derived Mesenchymal Stromal Cells Exhibit High HLA-DR Levels and Altered Cellular Characteristics under a Xeno-free and Serum-free Condition Stem Cell Reviews and Reports · 2021 · 12 citations
    4. Induced pluripotent stem cell line MUSIi006-A derived from hair follicle keratinocytes as a non-invasive somatic cell source Stem cell research · 2018 · 7 citations
    5. Endocrine abnormalities in ring chromosome 11: a case report and review of the literature Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 3 citations
    6. Isochromosome Mosaic Turner Syndrome: A Case Report Journal of the ASEAN Federation of Endocrine Societies · 2019 · 3 citations
    7. ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic Journal of the Endocrine Society · 2022
    8. Human Adipose-derived Mesenchymal Stromal Cells Exhibit High HLA-DR Levels and Altered Cellular Characteristics under a Xeno-free and Serum-free Condition Research Square (Research Square) · 2021
    9. SAT-213 Late Diagnosis of Complete Androgen Insensitivity Journal of the Endocrine Society · 2019
    10. The in vitro plasticity of hair follicle dermal and mesenchymal stem cells Durham e-Theses (Durham University) · 2008
    11. (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report The Journal of Sexual Medicine · 2026
    12. An Unusual Cause of Primary Amenorrhea Journal of the Endocrine Society · 2021
    13. Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma 2017
    14. Abordagens psicológicas e novas terapêuticas perante as escolhas do paciente portador da Síndrome de Morris Brazilian Journal of Health Review · 2022
    15. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    16. SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights Journal of the Endocrine Society · 2025
    17. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting Annals of medicine and surgery · 2022
    18. SUN-069 A 14 Year Old Female with Primary Amenorrhea Journal of the Endocrine Society · 2020
    19. Index of Suspicion Pediatrics in Review · 2006
    20. A Teenage Girl with Unexpected Pubertal Changes Clinical chemistry · 2018 · 1 citations
    21. Klinefelter syndrome and chronic leg ulcers Journal of The American Academy of Dermatology · 2009
    22. A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review Zhonghua neifenmi daixie zazhi · 2017 · 1 citations
    23. An X-traordinary stroke The Lancet · 2011 · 5 citations
    24. 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient AACE clinical case reports · 2022 · 1 citations
    25. A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus Experimental and Clinical Endocrinology & Diabetes · 2012
    26. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations
    27. ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE Zenodo (CERN European Organization for Nuclear Research) · 2020
    28. Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma 2016
    29. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) Clinical Genetics · 1998 · 28 citations
    30. Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization) Journal of The European Academy of Dermatology and Venereology · 2004 · 22 citations