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Document type:
journal article 
Author(s):
Melichar, VO; Guth, S; Hellebrand, H; Meindl, A; von der Hardt, K; Kraus, C; Trautmann, U; Rascher, W; Rauch, A; Zenker, M 
Title:
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males. 
Abstract:
Males with deletions of or within Xp22.3-pter display variable contiguous gene syndromes including manifestations of Léri-Weill syndrome, chondrodysplasia punctata, mental retardation, ichthyosis, Kallmann syndrome, and ocular albinism. Herein, we report on a male infant with a large, cytogenetically visible, terminal Xp deletion defined by extensive FISH and STS marker analysis to encompass 9.6 Mb, and findings of all of the disorders mentioned above. His deletion approximates the largest Xp te...    »
 
Journal title abbreviation:
Am J Med Genet A 
Year:
2007 
Journal volume:
143 
Journal issue:
Pages contribution:
135-41 
Language:
eng 
Print-ISSN:
1552-4825 
TUM Institution:
Frauenklinik und Poliklinik