Silengo M C, Davi G F, Bianco R, Biagioli M, Guala A, Franceschini P, Novelli G
Clin Genet. 1984 Jun;25(6):549-52. doi: 10.1111/j.1399-0004.1984.tb00500.x.
We describe a 3-month-old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23-25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease. The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1 q deletion syndrome.
我们描述了一名3个月大的女性，其1号染色体长臂（1q23 - 25）发生了新生的间质性缺失。临床特征包括生长发育迟缓、精神运动发育迟缓、唇腭裂、掌骨、跖骨和手指短小以及严重的先天性心脏病。先前报道的4例具有相同缺失的患者与我们的患者一样，具有独特的面部和肢体异常模式；因此，现在似乎有可能界定一种近端1q缺失综合征。
