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A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males
Author(s) -
Melichar Volker O.,
Guth Sabine,
Hellebrand Heide,
Meindl Alfons,
Hardt Katharina von der,
Kraus Cornelia,
Trautmann Udo,
Rascher Wolfgang,
Rauch Anita,
Zenker Martin
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31451
Subject(s) - genetics , biology , ichthyosis , locus (genetics) , phenotype , kallmann syndrome , gene , medicine , disease , covid-19 , infectious disease (medical specialty)
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 terminal deletion ever reported in a male individual. Since the extent of terminal Xp deletions viable in males is limited by the position of male lethal genes in Xp22.2 at about 10–11 Mb from the telomere, this patient falls into the category of the most severe male terminal Xp deletion phenotype. © 2006 Wiley‐Liss, Inc.