Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.

Author:

Joseph M,Cantu E S,Pai G S,Willi S M,Papenhausen P R,Weiss L

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Y chromosome translocation and their manifestations;X, Bernstein R.,1985

2. 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.,1984

3. Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth;Henke, A.; Wapenaar, M.; Ommen, G.; Maraschio, P.; Camerino, G.; Rappold, G.;Am 7 Hum Genet,1991

4. Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the psuedoautosomal region;Ogata, T.; Goodfellow, P.; Petit, C.; Aya, M.; Matsuo, N.;Jf Med Genet,1992

5. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s);Ogata, T.; Yoshizawa, A.; Muroya, K.;JT Med Genet,1995

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