Kamilla Schlade‐Bartusiak

Using long-read sequencing to detect and subtype a case with Temple syndrome

Sarah Dada, Vahid Akbari, Duha Hejla, Yaoqing Shen et autres

Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32. Understanding the underlying molecular mechanism is essential …

ca (code pays fourni par la source)

Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15

Kamilla Schlade‐Bartusiak, Emma Strong, Olive Zhu, Jessica Mackie et autres

Objective: To inform clinicians of the first known case of a live born diagnosed with syndromic partial trisomy 15 and maternal uniparental disomy 15 resulting from a mosaic embryo transfer (MET). We believe that this case will highlight the need for standardized …

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Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Pierre Boerkoel, Katherine Dixon, Carrie Fitzsimons, Yaoqing Shen et autres

Microphthalmia, anophthalmia, and coloboma (MAC) are a heterogeneous spectrum of anomalous eye development and degeneration with genetic and environmental etiologies. Structural and copy number variants of chromosome 13 have been implicated in MAC; however, the specific loci involved in disease pathogenesis have …

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Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

Eliza A. Phillips, Oana Caluseriu, Kamilla Schlade‐Bartusiak, Judy E. Chernos et autres

Autosomal ring chromosomes are rare cytogenetic findings that arise from breakage and fusion of the chromosome ends. Rings are mitotically unstable, usually sporadic and associated with a 'ring syndrome', characterized by a variable phenotype: growth retardation, no significant dysmorphisms and normal to …

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An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

Hui-Lin L. Chin, Kieran O’Neill, Kristal Louie, Lindsay A Brown et autres

Prenatal detection of structural variants of uncertain significance, including copy number variants (CNV), challenges genetic counseling, and creates ambiguity for expectant parents. In Duchenne muscular dystrophy, variant classification and phenotypic severity of CNVs are currently assessed by familial segregation, prediction of the …

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir Caner Akdemir et autres

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Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

Tracy Tucker, Michelle Steinraths, Tracey Oh, Tanya N. Nelson et autres

Tucker, Tracya; Steinraths, Michelleb; Oh, Traceyb; Nelson, Tanya N.a; Van Allen, Margot I.b,c; Brown, Lindsaya; Schlade-Bartusiak, Kamillaa,c Author Information

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MG-117 Chromosome microarray and non-coding DNA copy number variants – a case of alveolar capillary dysplasia at FOXF1 locus

Kamilla Schlade‐Bartusiak, Eric J. Gagné, Glenda Hendson, Margaret L. McKinnon

Background Chromosome microarray (CMA) analysis typically focuses on coding DNA (RefSeq and OMIM genes). Although non-coding intergenic and intronic variants may be critical in disease pathogenesis, copy number variants (CNV) in these regions are usually interpreted as variants of unknown clinical significance. …

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MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology

Sarah E. Buerki, Erin Slade, Kamilla Schlade‐Bartusiak, Lindsay A Brown et autres

Background Chromosome MicroArray-based genomic copy-number analysis (CMA) has an important role in the discovery of both novel and recurrent epilepsy-associated copy number variants (CNVs) in patients with epilepsy. In case of an additional neuro-developmental disorder the diagnostic accuracy may be as high …

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Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

Shira Harel, Ana S.A. Cohen, Khalid Hussain, Sarah Elizabeth Flanagan et autres

BACKGROUND: Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes. METHODS: Single nucleotide polymorphism microarray and Sanger sequencing were performed. Western …

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Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Isabel Filges, Steven P. Sparagana, Michael A. Sargent, Kathryn A. Selby et autres

The phenotype of recurrent ∼600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments including developmental delay and intellectual disability, epilepsy, autism and psychiatric disorders which are all subject to incomplete penetrance and variable expressivity. A …

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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza, Emma L. Baple et autres

Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic pathways give rise to a large and well-studied group of inherited disorders, the lysosomal storage diseases. …

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