XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation
T. Matsumoto
Department of Child Development Kumamoto University Medical School 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorK. Taku
Department of Child Development Kumamoto University Medical School 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorT. Miike
Department of Child Development Kumamoto University Medical School 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorN. Harada
Department of Human Genetics Nagasaki University School of Medicine Sakamoto-machi 12–4, Nagasaki 852, Japan
Search for more papers by this authorN. Niikawa
Department of Human Genetics Nagasaki University School of Medicine Sakamoto-machi 12–4, Nagasaki 852, Japan
Search for more papers by this authorT. Matsumoto
Department of Child Development Kumamoto University Medical School 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorK. Taku
Department of Child Development Kumamoto University Medical School 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorT. Miike
Department of Child Development Kumamoto University Medical School 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorN. Harada
Department of Human Genetics Nagasaki University School of Medicine Sakamoto-machi 12–4, Nagasaki 852, Japan
Search for more papers by this authorN. Niikawa
Department of Human Genetics Nagasaki University School of Medicine Sakamoto-machi 12–4, Nagasaki 852, Japan
Search for more papers by this author
References
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- Ballabio, A., G. Parenti, R. Carozzo, G. Coppa, L. Felici, V. Migliori, M. Silengo, P. Franceschini & G. Andria (1988) X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulfatase gene and translocation of its Y pseudogene. Clin. Genet. 34, 31–37.
- Berghe, H., P. Petit & J. P. Fryns (1977) Y to X translocation in man. Hum. Genet. 36, 129–141.
- Boyd, E., M. A. Ferguson-Smith, M. E. Ferguson-Smith, M. E. Jamieson, J. E. Russell, D. A. Aitken, R. Sanger & P. Tippett (1981) A case of X;Y translocation which maps the Xg locus to Xp24→pter. J. Med. Genet. 18, 224 (Abst.).
- Metaxotou, C., D. Ikkos, P. Panagiotopoulou, M. Alevizaki, A. Mavrou, C. Tsenghi & N. Matsaniotis (1983) A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation. Clin. Genet. 24, 380–383.
- Pfeiffer, R. A. (1980) Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son. Cytogenet. Cell Genet. 26, 150–157.
- Tiepolo, L., O. Zuffardi & A. Rodewald (1977) Nullisomy for the distal portion of Xp in a male child with an X/Y translocation. Hum. Genet. 39, 277–281.
- Yamada, K., S. Nanko, S. Hattori & K. Isurugi (1982) Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers. Hum. Genet. 60, 85–90.
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