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PubMed · 457145

Direct duplication 2p14 to 2p23.

E Yunis·J González·R Zuñiga·O M Torres de Caballero·A Mondragon
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Abstract

A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14 to 2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.

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Abnormalities, MultipleChromosome AberrationsChromosome BandingChromosomes, Human, 1-3HumansInfant, NewbornKaryotypingMaleSyndromeTrisomyCase ReportsJournal Article

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E Yunis, J González, R Zuñiga, O M Torres de Caballero, A Mondragon. 1979-04-27. Direct duplication 2p14 to 2p23.. https://doi.org/10.1007/bf00286910

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