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PubMed · 7197468

De novo partial 2p duplication with postmortem description.

P L Monteleone·J D Blair·E R Graviss·S C Chen·A Salvador·J A Grzegocki·J A Monteleone
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Abstract

An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13 leads to pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.

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Abnormalities, MultipleChromosome AberrationsChromosome DisordersChromosomes, Human, 1-3FemaleFetal Growth RetardationHumansInfant, NewbornInfant, Newborn, DiseasesKaryotypingPregnancyJournal Article

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P L Monteleone, J D Blair, E R Graviss, S C Chen, A Salvador, J A Grzegocki, J A Monteleone. 1981. De novo partial 2p duplication with postmortem description.. https://doi.org/10.1002/ajmg.1320100108

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