TY - JOUR
T1 - Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: Clinical and molecular characterization
AU - Madrigal, Irene
AU - Fernández-Burriel, Miguel
AU - Rodriguez-Revenga, Laia
AU - Cabrera, Jose Carlos
AU - Martí, Milagros
AU - Mur, Antonio
AU - Milà, Montserrat
PY - 2010/12/1
Y1 - 2010/12/1
N2 - Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes. © 2010 The Japan Society of Human Genetics All rights reserved.
AB - Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes. © 2010 The Japan Society of Human Genetics All rights reserved.
KW - aCGH
KW - ARHGEF6
KW - HPRT1
KW - intellectual disability
KW - PHF6
KW - SLC9A6
KW - Xq26.2-q26.3 duplication
U2 - 10.1038/jhg.2010.119
DO - 10.1038/jhg.2010.119
M3 - Article
VL - 55
SP - 822
EP - 826
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 12
ER -