Stengel-Rutkowski S, Murken J D, Pilar V, Dutrillaux B, Rodewald A, Goebel R, Bassermann R
Eur J Pediatr. 1979 Feb 8;130(2):111-25. doi: 10.1007/BF00442348.
Chromosome analysis in a newborn, the daughter of diabetic parents, who showed multiple dysmorphic signs and malformations revealed direct duplication of a long arm segment of chromosome 3(3q2100 leads to 3q2700). Both parents have normal karyotypes. Compilation of the phenotype stigmata with those of 7 other patients and 1 fetus with partial trisomy 3q confirmed that clinical recognition of this syndrome is possible. It is characterized by hypertrichosis, typical craniofacial dysmorphia, frequent organ malformations and skeletal anomalies, as well as a peculiar dermatoglyphic pattern. It is a severe genetic disturbance, leading to death in the first months of life in many cases and only symptomatic care is advised.
对一对糖尿病父母的新生儿女儿进行染色体分析，该患儿有多种畸形体征和畸形，结果显示3号染色体长臂片段（3q2100至3q2700）直接重复。父母双方的核型均正常。将该患儿的表型特征与其他7例患者及1例3q部分三体胎儿的表型特征进行汇总，证实这种综合征是可以临床识别的。其特征为多毛症、典型的颅面部畸形、频繁的器官畸形和骨骼异常，以及特殊的皮纹模式。这是一种严重的基因紊乱，许多病例在出生后的头几个月内死亡，建议仅进行对症治疗。
