ArticleJournal of pediatric genetics2022
De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia.
Article in Journal of pediatric genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Ring chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15). The patient presented with short stature, speech delay, café au lait spots, and facial dysmorphic features, together with new findings of left crossed fused renal ectopia and 11 ribs. This presentation was compared with the findings of cases reported previously.
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