Abstract
A 15-month-old boy with mild developmental delay and several minor anomalies was found to be mosaic 46,XY/47,XY ,+mar(1). The marker r(1) was a small de novo ring identified by FISH with a painting type DNA probe.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Chromosome Aberrations*
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Chromosome Disorders*
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Developmental Disabilities / genetics*
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Genetic Markers*
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Humans
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In Situ Hybridization, Fluorescence
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Infant
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Karyotyping
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Male