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.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Chromosomes, Human, Pair 22*
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Epilepsy, Tonic-Clonic / diagnosis
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Epilepsy, Tonic-Clonic / genetics*
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Female
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Follow-Up Studies
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Humans
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Infant
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Infant, Newborn
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Phenotype
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Pierre Robin Syndrome / diagnosis
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Pierre Robin Syndrome / genetics*
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Trisomy*