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[Complete trisomy 22].

作者信息

Wollina K, Seidel J, Kirchner M, Beensen V, Kelbova C

机构信息

Universitäts-Kinderklinik Jussuf Ibrahim, Jena.

出版信息

Monatsschr Kinderheilkd. 1993 Mar;141(3):211-3.

PMID:8474467
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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