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PubMed · 8322811

Mosaic tetrasomy 8p.

D Newton·L Hammond·J Wiley·T Kushnick
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Abstract

We report on a patient with mosaic tetrasomy 8p [46,XX/47,XX+i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p).

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Abnormalities, MultipleAgenesis of Corpus CallosumAneuploidyChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, Pair 8FemaleHeart FailureHumansInfant, NewbornKaryotypingMosaicismMuscle HypotoniaSpineCase ReportsJournal ArticleReview

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D Newton, L Hammond, J Wiley, T Kushnick. 1993-06-15. Mosaic tetrasomy 8p.. https://doi.org/10.1002/ajmg.1320460510

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