Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.
作者： Linda A. Cannizzaro , Frederick Hecht
DOI: 10.1111/J.1399-0004.1987.TB03326.X
关键词:
摘要: Incontinentia pigmenti (IP) is a genetic disease that usually lethal in males. We report finding an X;10 translocation girl with IP. Three other X/autosome translocations have been observed females IP: two involving chromosome 9 and one 17. The breakpoint all four cases the X was band Xp11. IP gene locus can therefore be confidently assigned to and, specifically, most likely subband Xp11.2. propose may prove submicroscopic deletion.
elsevier.com
sci-hub.se 参考文章(4)
W Lenz, Letter: Half chromatid mutations may explain incontinentia pigmenti in males. American Journal of Human Genetics. ,vol. 27, pp. 690- 691 ,(1975)
Uta Francke, No�lynn Oliver, Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomes Human Genetics. ,vol. 45, pp. 137- 165 ,(1978) , 10.1007/BF00286957
Shirley V. Hodgson, B. Neville, R. W. A. Jones, Claudine Fear, M. Bobrow, Two cases of X/autosome translocation in females with incontinentia pigmenti. Human Genetics. ,vol. 71, pp. 231- 234 ,(1985) , 10.1007/BF00284581
Pinel-Briquel N, Weber M, Beurey J, Gilgenkrantz S, Tridon P, Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? Annales De Genetique. ,vol. 28, pp. 90- 92 ,(1985)