Search results for " Comparative Genomic Hybridization"

showing 3 items of 13 documents

Microcephaly a clinical-genetic and neurologic approach

2013

Settore MED/38 - Pediatria Generale E SpecialisticaMicrocephaly Cognitive Impairment Comparative Genomic Hybridization Magnetic Resonance Imaging
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Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

2022

Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. R…

Space and Planetary SciencePaleontologyprenatal diagnosis; array comparative genomic hybridization; coelocentesis; monosomy X; beta thalassemiaarray comparative genomic hybridization beta thalassemia coelocentesis monosomy X prenatal diagnosisGeneral Biochemistry Genetics and Molecular BiologyEcology Evolution Behavior and Systematics
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Chromosomal imbalances and their target genes in gastrointestinal stromal tumors

2006

molecular pathogenesisarray comparative genomic hybridizationgene dosagegastrointestinal stromal tumor
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