Townes P L, White M, Di Marzo S V
Am J Dis Child. 1979 Apr;133(4):383-5. doi: 10.1001/archpedi.1979.02130040037008.
To our knowledge, there have been three prior reports of patients found, with trypsin-Giemsa banding, to be monosomic for the terminal q segment of chromosome 4. Described herein is a fourth patient with this chromosome abnormality. Comparison of these four patients suggests a characteristic phenotype in the 4q- syndrome: cleft palate, satyr deformity of the pinnae, snub nose, retrognathia and micrognathia, hypertelorism, oropharyngeal hypothonia or upper airway obstruction, cardiac defect, clinodactyly of the fifth fingers with absence of a flexion crease, simian lines, displaced or clinodactylous toes, and mental retardation. In the three prior reports, the 4q- syndrome resulted from a de novo deletion. In the present case, the 4q monosomy was inherited from the father, who had a 4;20 translocation.
据我们所知，此前已有三篇关于通过胰蛋白酶-吉姆萨显带法发现患者4号染色体末端q片段单体型的报道。本文描述的是第四例患有这种染色体异常的患者。对这四名患者的比较表明，4q-综合征具有以下特征性表型：腭裂、耳廓羊蹄样畸形、塌鼻、下颌后缩和小颌畸形、眼距过宽、口咽肌张力减退或上呼吸道梗阻、心脏缺陷、第五指 clinodactyly 且无屈褶、猿线、趾移位或 clinodactylous 以及智力发育迟缓。在之前的三篇报道中，4q-综合征是由新发缺失引起的。在本病例中，4q单体型是从父亲那里遗传而来的，父亲有4;20易位。
