Patiutko R S, Kulieva L M, Egolina N A
Genetika. 1978 Sep;14(9):1653-7.
Clinical and cytogenetic data on the infant with mental retardation, multiple congenital anomalies and trisomy for the short arm of the 4th chromosome (46, XY, der (1) (1;4) (q43; p15) are given. The abnormal chromosome was inherited from the father who had a balanced translocation 46, X; (1, 4) (q43; p15). Clinical features of the patient corresponded to those in the observation of other authors.
给出了一名患有智力迟钝、多发先天性畸形且第4号染色体短臂三体(46, XY, der (1) (1;4) (q43; p15))的婴儿的临床和细胞遗传学数据。异常染色体是从父亲那里遗传而来,父亲有一条平衡易位染色体46, X; (1, 4) (q43; p15)。该患者的临床特征与其他作者观察到的相符。