Bartsch O, Kalbe U, Ngo T K, Lettau R, Schwinger E
Department of Human Genetics, Medizinische Universität zu Lübeck, Federal Republic of Germany.
Am J Med Genet. 1990 Oct;37(2):254-7. doi: 10.1002/ajmg.1320370218.
We report on two sibs with partial dup (7q), a retarded 9-month-old boy and an aborted fetus of 17 weeks' gestational age. Besides minor anomalies, the boy had frontal bossing, macrocephaly with hydrocephaly, a high forehead, and a large fontanelle. GTG banded chromosomes showed a 14p+ abnormality. Because his mother carries a balanced, de novo translocation with a breakpoint in band 7q33, the boy has a duplication of the distal portion of band 7q33 and the segment 7q34----qter. Our findings suggest that the phenotype in terminal duplications of 7q may, in some patients, be recognized clinically.
我们报告了两名患有部分7号染色体长臂重复（partial dup (7q)）的同胞，一名发育迟缓的9个月大男孩和一名孕17周的流产胎儿。除了轻微异常外，该男孩有额部隆突、巨头畸形伴脑积水、高额和大囟门。GTG显带染色体显示14号染色体短臂增加（14p+）异常。由于他的母亲携带一条平衡的、新发的易位染色体，断点位于7号染色体长臂3区3带（7q33），该男孩有7号染色体长臂3区3带（7q33）远端部分以及7号染色体长臂3区4带至末端（7q34----qter）的重复。我们的研究结果表明，在某些患者中，7号染色体长臂末端重复的表型在临床上可能是可识别的。
