De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.

Author:

Temple I K,Hurst J A,Hing S,Butler L,Baraitser M

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference7 articles.

1. An XX male and two t(X; Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3;Al-Gazali, L.I.; Mueller, R.F.; Caine, A.;J Med Genet,1988

2. The gene for incontinentia pigmenti is assigned to Xq28;Sefiani, A.; Abel, L.; Heuertz, S.;Genomics,1989

3. Two cases of X/autosome translocations in females with incontinentia pigmenti;Hodgson, S.V.; Neville, B.; Jones, R.W.A.;Hum Genet,1985

4. Translocation (X; 9)(pl 1; q34) in a girl with incontinentia pigmenti (IP); implications for the regional assignment of the IP locus to Xpl 1?;Gilgenkrantz, S.; Tridon, P.; Pinet-Briquel, N.; Beurey, I.; Weber, M.,1985

5. Translocation (X; 13)(pll.21; ql2.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma;Kaiii, T.; Tsukahara, M.; Fukushima, Y.; Hata, A.; Matuso, K.; Kuroki, Y.;Ann Genet (Paris),1985

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