caa a22 4500 467983488 CHVBK 20180323112525.0 cr unu---uuuuu 170328e19900201xx s 000 0 eng 10.1007/BF00200578 doi (NATIONALLICENCE)springer-10.1007/BF00200578 Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization [Elektronische Daten] [Ulrich Müller, Nancy Schneider, James Marks, Kenneth Kupke, Golder Wilson] 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. Springer-Verlag, 1990 Müller Ulrich Division of Genetics, The Children's Hospital, 02115, Boston, MA, USA aut Schneider Nancy Department of Pathology, University of Texas Southwestern Medical Center, 75235, Dallas, TX, USA aut Marks James Department of Pediatrics, University of Texas Southwestern Medical Center, 75235, Dallas, TX, USA aut Kupke Kenneth Division of Genetics, The Children's Hospital, 02115, Boston, MA, USA aut Wilson Golder Department of Pediatrics, University of Texas Southwestern Medical Center, 75235, Dallas, TX, USA aut Human Genetics Springer-Verlag 84/3(1990-02-01), 289-292 0340-6717 84:3<289 1990 84 439 https://doi.org/10.1007/BF00200578 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00200578 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Müller Ulrich Division of Genetics, The Children's Hospital, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Schneider Nancy Department of Pathology, University of Texas Southwestern Medical Center, 75235, Dallas, TX, USA aut NATIONALLICENCE 700 1- Marks James Department of Pediatrics, University of Texas Southwestern Medical Center, 75235, Dallas, TX, USA aut NATIONALLICENCE 700 1- Kupke Kenneth Division of Genetics, The Children's Hospital, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Wilson Golder Department of Pediatrics, University of Texas Southwestern Medical Center, 75235, Dallas, TX, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/3(1990-02-01), 289-292 0340-6717 84:3<289 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer