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- W1993161004 abstract "We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification (MLPA) techniques identified an unexpected large unbalanced genomic aberration: a 17.6 Mb deletion of 9p associated to a 14.8 Mb duplication of 20p. The deleted 9p genes, especially CER1 and FREM1, seem to be more relevant to the phenotype than the duplicated 20p genes. This study also shows the relevance of using molecular techniques to make an accurate diagnosis in patients with dysmorphic features and multiple anomalies suggestive of chromosome aberration, even if on G-banding their karyotype appears to be normal. Fluorescence in situ hybridization (FISH) was necessary to identify a masked balanced translocation in the patient's mother, indicating the importance of associating cytogenetic and molecular techniques in clinical genetics, given the implications for patient management and genetic counseling." @default.
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- W1993161004 date "2012-03-01" @default.
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- W1993161004 title "Cytogenomic characterization of an unexpected 17.6Mb 9p deletion associated to a 14.8Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype" @default.
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- W1993161004 doi "https://doi.org/10.1016/j.gene.2012.01.007" @default.
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