Zellweger H, Ionasescu V, Simpson J, Burmeister L
Clin Pediatr (Phila). 1976 Jul;15(7):601-6, 617-8. doi: 10.1177/000992287601500706.
A case of trisomy 22 with partial long arm deletion (47, +22 q-) studied by G-banding is presented. The patient, a five-month-old male, showed failure to thrive, delayed psychomotor development, large, low-set ears, mild micrognathia, atrial septal defect, and marked muscular hypotonia. The father's karyotype was normal. The mother's karyotype was 46 XX, but one of the no22 chromosomes showed a deletion of the long arm as seen in the proband's karyotype. A comparison with previously reported cases in the literature indicates a great variability of clinical features of trisomy 22: "classical form," cat eye syndrome, and abortive cases (as this reported case).
本文报告了一例经G显带研究的22三体伴部分长臂缺失（47, +22 q-）病例。患者为一名5个月大的男性，表现为发育不良、精神运动发育迟缓、耳朵大且低位、轻度小颌畸形、房间隔缺损和明显的肌张力低下。父亲的核型正常。母亲的核型为46 XX，但其中一条22号染色体显示出与先证者核型中所见的长臂缺失。与文献中先前报道的病例相比，22三体的临床特征具有很大的变异性：“经典型”、猫眼综合征和流产病例（如本报告病例）。
