✦ LIBER ✦
Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization
✍ Scribed by Ulrich Müller; Nancy R. Schneider; James F. Marks; Kenneth G. Kupke; Golder N. Wilson
- Book ID
- 104660664
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 469 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
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.