Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus

Abstract

Genotype-phenotype correlation is provided. In the connatal form of PMD, leukodystrophy and cerebellar atrophy can occur antenatally and be established at 25 weeks' gestation. The observation of degenerative brain lesions occurring before the onset of subcortical myelination suggests that the PLP1 gene has a more complex role in human brain development, exceeding its structural function in myelin formation.

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley‐bixler syndrome phenotype in three sibling fetuses

“…The specific array platform due to the SNP oligo content allows polymorphic SNP detection across the genome giving information on copy neutral areas of loss of heterozygosity and uniparental disomy (UPD). The methodology used for the analysis of the resulting data was as previously described (Kitsiou‐Tzeli et al, ), with the exception that the latest version of CytoGenomics 3.0 software (Agilent Technologies, Santa Clara, CA) was used for both feature extraction and data analysis. For the location of genes in the deleted or duplicated genomic segments, the UCSC (http://genome.ucsc.edu/) and the Database of Genomic Variants (http://projects.tcag.ca/variation/; human genome build 19) were used.…”

A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion

“…Agilent Human Genome 4X180 K CGH + SNP microarrays with an average spatial resolution of 12 kb was used in the study (Agilent Technologies, Santa Clara, CA). The methodology used for aCGH and analysis of the resulting data was as previously described [ 20 , 21 ], with the exception of the latest version of CytoGenomics 3.0 software (Agilent Technologies, Santa Clara, CA) being used for both feature extraction and data analysis. For the location of genes in the deleted or duplicated genomic segments the UCSC ( http://genome.ucsc.edu/ ) and the Database of Genomic Variants ( http://projects.tcag.ca/variation/ ; human genome build 19) were used.…”