Complete trisomy 22

Complete trisomy 22

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...

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Veröffentlicht in:Monatsschrift Kinderheilkunde 1993-03, Vol.141 (3), p.211-213
Hauptverfasser: Wollina, K, Seidel, J, Kirchner, M, Beensen, V, Kelbova, C
Format: Artikel
Sprache:ger
Schlagworte:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Chromosomes, Human, Pair 22
Epilepsy, Tonic-Clonic - diagnosis
Epilepsy, Tonic-Clonic - genetics
Female
Follow-Up Studies
Humans
Infant
Infant, Newborn
Phenotype
Pierre Robin Syndrome - diagnosis
Pierre Robin Syndrome - genetics
Trisomy
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Beschreibung
Zusammenfassung: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.
ISSN:0026-9298