[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 seizures, remarkable dumbles on both elbows and a clavicular anomaly.
Wollina
K
K
Universitäts-Kinderklinik Jussuf Ibrahim, Jena.
Seidel
J
J
Kirchner
M
M
Beensen
V
V
Kelbova
C
C
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy
Komplette Trisomie 22.