Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
MJ Friez, JR Jones, K Clarkson, H Lubs, D Abuelo… - …, 2006 - publications.aap.org
OBJECTIVE. Our goal was to describe the neurologic and clinical features of affected males
from families with X-linked patterns of severe mental retardation, hypotonia, recurrent
respiratory infection, and microduplication of Xq28 that consistently includes the MECP2
(methyl-CpG binding protein 2) gene. STUDY DESIGN. To identify duplications, multiplex
ligation-dependent probe amplification of the MECP2 gene was performed on male
probands from families with X-linked mental retardation. The males either had linkage to …
from families with X-linked patterns of severe mental retardation, hypotonia, recurrent
respiratory infection, and microduplication of Xq28 that consistently includes the MECP2
(methyl-CpG binding protein 2) gene. STUDY DESIGN. To identify duplications, multiplex
ligation-dependent probe amplification of the MECP2 gene was performed on male
probands from families with X-linked mental retardation. The males either had linkage to …