Laboratorio AbaCid-Genética, Grupo Hospital de Madrid, Madrid, Spain.
Jena University Hospital, Institute of Human Genetics, Jena, Germany.
Gene. 2014 Feb 10;535(2):165-9. doi: 10.1016/j.gene.2013.11.041. Epub 2013 Dec 6.
Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of chromosomal insertion malsegregation involving 3q region are available yet, thus making it relatively rare. In this case report, we are presenting a unique case of discontinuous partial trisomy of 3q26.1-q28 region which resulted from a segregation error of two insertions involving 3q26.1 to 3q27.3 and 3q28 regions with ~21Mb and ~2Mb sizes, respectively. The maternally inherited insertion was cytogenetically characterized as der(8)(8pter→8p22::3q26→3q27.3::3q28→3q28::8p22→8qter) and the patient's major clinical features involved Dandy Walker malformation, sub-aortic ventricular septal defect, upslanting palpebral fissures, clinodactyly, hirsutism, and prominent forehead. Besides, a review of the literature involving cases with similar chromosomal imbalances and cases with "3q-duplication syndrome" is also provided.
到目前为止，仅报道了少数几例由于父母平衡易位的分离错误和父母着丝粒倒位导致的重复缺失产物的分离而导致的 3q 部分三体病例。目前仅报道了涉及 3q 区域的 5 例染色体插入错误分离病例，因此相对较少。在本病例报告中，我们介绍了一个独特的 3q26.1-q28 区域不连续部分三体病例，该病例是由两个涉及 3q26.1 到 3q27.3 和 3q28 区域的插入的分离错误引起的，大小分别为21Mb 和2Mb。母系遗传的插入被细胞遗传学鉴定为 der(8)(8pter→8p22::3q26→3q27.3::3q28→3q28::8p22→8qter)，患者的主要临床特征包括 Dandy Walker 畸形、主动脉瓣下室间隔缺损、上睑下垂、指（趾）弯曲、多毛症和额突出。此外，还对涉及类似染色体不平衡的文献综述和“3q 重复综合征”病例进行了综述。
