Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
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DOI: 10.1186/s13039-018-0375-3
Abstract: BackgroundRing chromosome instability may influence a patient’s phenotype and challenge its interpretation.ResultsHere, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32… read more here.
Keywords: phenotype; 22q13 q13; monosomy; deletion ... See more keywords