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PubMed · 8474467

[Complete trisomy 22].

K Wollina·J Seidel·M Kirchner·V Beensen·C Kelbova
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Abstract

In a 2 6/12-years-old girl a complete trisomy 22 was verified with the G-banding (CTG-technique). She presented with Pierre-Robin-Sequence, cardiac and renal malformations, craniofacial dysmorphia and psychomotoric retardation as it often occurs in trisomy 22. Additionally, we observed tonic-clonic seizures, remarkable dumbles on both elbows and a clavicular anomaly.

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Abnormalities, MultipleChromosomes, Human, Pair 22Epilepsy, Tonic-ClonicFemaleFollow-Up StudiesHumansInfantInfant, NewbornPhenotypePierre Robin SyndromeTrisomyCase ReportsEnglish AbstractJournal Article

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K Wollina, J Seidel, M Kirchner, V Beensen, C Kelbova. 1993. [Complete trisomy 22].. https://pubmed.ncbi.nlm.nih.gov/8474467/

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