caa a22 4500 46798414X CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900101xx s 000 0 eng 10.1007/BF00208942 doi (NATIONALLICENCE)springer-10.1007/BF00208942 Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination [Elektronische Daten] [M. Ferguson-Smith, A. Cooke, N. Affara, E. Boyd, J. Tolmie] Summary: Clinical, chromosomal and molecular studies of a group of 15 XX males confirm the presence of two main groups. A Y+ve group of ten patients exhibit sex reversal as the result of transfer of the distal end of the short arm of the Y chromosome, including testis determining factors, to the short arm of one X-chromosome, presumably by accidental crossing-over in paternal meiosis. The ten patients have Klinefelter's syndrome but differ from XXY cases in that they are short and shown no impairment of intelligence. The four Y-ve XX males have no demonstrable Y sequences and differ from Y+ve cases in abnormality of the external genitalia and invariable gynaecomastia; in this, they more closely resemble XX true hermaphrodites than XY males. These observations on Y-ve XX males and an additional exceptional Y+ patient suggest that the ZFY locus is not essential for male differentiation and is not the primary testis determining factor. Male sex determination in sporadic, and familial Y-ve XX males and true hermaphrodites is likely to be the result of mutation in an X-linked TDF gene and its consequent escape from the constraints of X-inactivation. It seems premature to abandon the dosage model of sex determination on the recent evidence that ZFX does not show dosage compensation. Springer-Verlag, 1990 Ferguson-Smith M. Department of Pathology, Cambridge University, Tennis Court Road, CB2 1QP, Cambridge, UK aut Cooke A. Duncan Guthrie Institute of Medical Genetics, University of Glasgow, G3 8SJ, Yorkhill, Glasgow, UK aut Affara N. Department of Pathology, Cambridge University, Tennis Court Road, CB2 1QP, Cambridge, UK aut Boyd E. Duncan Guthrie Institute of Medical Genetics, University of Glasgow, G3 8SJ, Yorkhill, Glasgow, UK aut Tolmie J. Duncan Guthrie Institute of Medical Genetics, University of Glasgow, G3 8SJ, Yorkhill, Glasgow, UK aut Human Genetics Springer-Verlag 84/2(1990-01-01), 198-202 0340-6717 84:2<198 1990 84 439 https://doi.org/10.1007/BF00208942 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00208942 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ferguson-Smith M. Department of Pathology, Cambridge University, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 700 1- Cooke A. Duncan Guthrie Institute of Medical Genetics, University of Glasgow, G3 8SJ, Yorkhill, Glasgow, UK aut NATIONALLICENCE 700 1- Affara N. Department of Pathology, Cambridge University, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 700 1- Boyd E. Duncan Guthrie Institute of Medical Genetics, University of Glasgow, G3 8SJ, Yorkhill, Glasgow, UK aut NATIONALLICENCE 700 1- Tolmie J. Duncan Guthrie Institute of Medical Genetics, University of Glasgow, G3 8SJ, Yorkhill, Glasgow, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/2(1990-01-01), 198-202 0340-6717 84:2<198 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer