Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

Author:

al-Gazali L I,Mueller R F,Caine A,Antoniou A,McCartney A,Fitchett M,Dennis N R

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. Y chromosome translocations and their implications;X, Bernstein R.,1985

2. De novo X; Y translocation associated with imperforate anus and retinal pigmentary abnormalities;Johnston, K.; Schonberg, S.; Littman, V.;Am J Med Genet,1987

3. 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

4. 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;Temple, I.K.; Hurst, J.A.; Hing, S.; Butler, L.; Baraitser, M.;J Med Genet,1990

5. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome;Curry, C.J.R.; Magenis, R.E.; Brown, M.;N EnglJ Med,1984

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