Vogel W, Siebers J W, Gunkel J
Humangenetik. 1975 Jun 19;28(2):103-12. doi: 10.1007/BF00735742.
The clinical and cytogenetic data of 3 non-related patients who have a partial trisomy 4q in common are reported. The chromosome aberration originated from a parental balanced translocation in 2 cases (t(3p+;4q--)and t(4q--;18q+)); in the 3rd case an inverted insertion of 4q22 yields q34 into 4q34 occured spontaneously. A comparison of the symptoms exhibited by these probands and 7 cases from the literature gives no indication of an uniform phaenotype of this aberration.
报告了3例患有共同4q部分三体的非亲缘关系患者的临床和细胞遗传学数据。在2例中,染色体畸变源于亲代平衡易位(t(3p+;4q--)和t(4q--;18q+));在第3例中,4q22至q34反向插入4q34是自发发生的。对这些先证者与文献中7例患者所表现症状的比较未显示出这种畸变存在统一的表型。