Summary
An 11-year-old patient with incomplete testicular feminization and a 47,XXY karyotype is described. The patient had female external genitalia, clitoromegaly, and some features of Klinefelter's syndrome, including speech delay and delayed intellectual development. DNA analysis using X chromosomal DNA sequences suggests that the supernumerary X chromosome in the patient resulted from maternal nondisjunction during meiosis II. The M II error thereby provides the basis for homozygosity of a mutation in the androgen receptor locus.
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Müller, U., Schneider, N.R., Marks, J.F. et al. Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet 84, 289–292 (1990). https://doi.org/10.1007/BF00200578
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DOI: https://doi.org/10.1007/BF00200578