Lungarotti M S, Falorni A, Calabro A, Passalacqua F, Dallapiccola B
J Med Genet. 1980 Oct;17(5):398-402. doi: 10.1136/jmg.17.5.398.
A de novo tandem duplication 1q32--q42 was observed in a 7-month-old mentally retarded and malformed male infant. Karyotype-phenotype correlation in other similar unbalanced trisomies has shown psychomotor retardation, micro- or retrognathia or both, and low set or malpositioned ears to be the most common features associated with this newly recognised syndrome. However, after reviewing patients with duplication of regions 1q2, 3, and 4 and 1q2 and 3, it was concluded that similar non-specific clinical features are also present in these 1q imbalances. On the whole, a rather wide range in phenotypical expression has been observed in different cases. Thus it is concluded that, at present, it is impossible to delineate the profile of the syndromes resulting from partial 1q trisomies.
在一名7个月大的智力发育迟缓且畸形的男婴中观察到了一个新发的1q32 - q42串联重复。在其他类似的不平衡三体综合征中，核型与表型的相关性显示，精神运动发育迟缓、小颌或后缩颌（或两者皆有）以及低位或位置异常的耳朵是与这种新认识的综合征相关的最常见特征。然而，在对1q2、3和4区域以及1q2和3区域重复的患者进行回顾后得出结论，这些1q不平衡中也存在类似的非特异性临床特征。总体而言，在不同病例中观察到了相当广泛的表型表达范围。因此得出结论，目前尚无法描绘出部分1q三体综合征所导致的综合征特征。
