We report on a 12-year-old boy who presented with delayed development and CNS dysmyelination. Genetic studies showed a normal 46,XY karyotype by routine cytogenetic analysis, and 46,XY.ish del(18)(q23)(D18Z1+, MBP-) by FISH using a locus-specific probe for the MBP gene (18q23). Though the patient appeared to have normal chromosome 18s by repeated high resolution banding analysis, his clinical f...

MOTIVATION Chromosomal copy number changes (aneuploidies) are common in cell populations that undergo multiple cell divisions including yeast strains, cell lines and tumor cells. Identification of aneuploidies is critical in evolutionary studies, where changes in copy number serve an adaptive purpose, as well as in cancer studies, where amplifications and deletions of chromosomal regions have b...

Copy number variation (CNV) detection has become an integral part many of genetic studies and new technologies promise to revolutionize our ability to detect and link them to disease. However, recent studies highlight discrepancies in the genome wide CNV profile when measured by different technologies and even by the same technology. Furthermore, the change point algorithms used to call CNVs ca...

About 2% to 5% of live births have at least one identifiable congenital anomaly at birth (Kalter and Warkany, 1983), ranging from mild to severe abnormalities that compromise the survival. Congenital malformations have been showing increasing importance as a cause of suffering and harm to health of the population, accounting for a large percentage of perinatal morbidity and mortality (De Galan-...

DNA preparation to cancer profiles •Many of the changes in the genome associated to cancer can be seen by making gene copy number measurements. Increased copy numbers of genes are associated with oncogenes and decreased copy numbers are associated with tumor suppressor genes. •Array-based Comparative Genomic Hybridization (arrayCGH), introduced in the late nineties, allows efficient characteriz...

BACKGROUND Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients with CDH and renders the correct diagnosis critical for accurate genetic couns...

4 Analysis of array CGH profile 3 4.1 Segmentation algorithms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 4.2 The glad function . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 4.3 The daglad function . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 4.4 Tuning parameters . . . . . . . . . . . . . . . . . . . . . . ....