Abstract

[automatically translated] For a better understanding of pathogenesis of mental retardation (MR) combined or not with malformation manifestations, laboratory tests are of considerable importance. The Array CGH technique has improved the sensitivity in the evaluation of break points in chromosomal deletions. Here we present a case of deletion 15q26.2-15qter in a girl with average outdoor dysmorphic notes (such as clinodactyly), internal (double kidney district right) and some alteration of language. The GCH Microarray analysis was performed by extracting from peripheral blood lymphocytes (Puregene DNA isolation kit, Gentra) and marking (Cy5) the DNA of the proband and realizing the Array CGH (Agilent human genome CGH Microarray Kit 4 x 44K, resolving capacity : 200Kb). The FISH method was realized by T-multiprobe (Cytocell, UK) in accordance with the recommendations of the manufacturer. The comparison between the genomic DNA of the proband and the control DNA (Human DNA, Promega), appropriately marked (Cy3), highlighted the presence of a partial monosomy of approximately 5.55 Mb of the long arm of chromosome 15 (positions: from 94,783,205 to 100,338,915). The evaluation of break points in that monosomy allows us to evaluate the genes potentially involved in the pathogenesis of the RM. Particular emphasis have IGFR1 genes, MEF2A and CHSY1 whose alterations appear to be related to multiple processes of development somatic and CNS. 55 Mb of the long arm of chromosome 15 (positions: from 94,783,205 to 100,338,915). The evaluation of break points in that monosomy allows us to evaluate the genes potentially involved in the pathogenesis of the RM. Particular emphasis have IGFR1 genes, MEF2A and CHSY1 whose alterations appear to be related to multiple processes of development somatic and CNS. 55 Mb of the long arm of chromosome 15 (positions: from 94,783,205 to 100,338,915). The evaluation of break points in that monosomy allows us to evaluate the genes potentially involved in the pathogenesis of the RM. Particular emphasis have IGFR1 genes, MEF2A and CHSY1 whose alterations appear to be related to multiple processes of development somatic and CNS.
Original languageItalian
Pages20-20
Number of pages1
Publication statusPublished - 2008

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