[Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl)].
Postaxial polydactyly represents an important manifestation of distal (partial) trisomy 13. We report on 2 patients with different chromosomal aberrations who share also mental deficiency, abnormal EEG, moderate dilatation of the 3rd ventricle and craniofacial dysmorphy.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D004569:Electroencephalography; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D014314:Trisomy
Postaxiale Polydaktylie als Kennzeichen einer partiellen Trisomie des langen Arms eines Chromosoms Nr. 13 (Zwei Fälle mit 46,XX,t(22;13) (q13;q31) und 46,XYdup(13) (pter-q34::q22-qter).