De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure
Author(s) -
ChihPing Chen,
YiNing Su,
Hung-Hung Lin,
SchuRern Chern,
FuuJen Tsai,
Pei-Chen Wu,
ChenChi Lee,
Yuting Chen,
Wayseen Wang
Publication year - 2011
Publication title -
taiwanese journal of obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.518
H-Index - 35
eISSN - 1875-6263
pISSN - 1028-4559
DOI - 10.1016/j.tjog.2011.01.018
Subject(s) - short stature , gene duplication , comparative genomic hybridization , medicine , speech delay , premature ovarian failure , genetics , chromosome , pediatrics , biology , gene
To present molecular cytogenetic characterization of a de novo duplication of Xq22.1→q24 in a mentally retarded woman with short stature and premature ovarian failure.
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