Park J P, Edwards M J, Moeschler J B, Marin-Padilla J M, Berg S Z, Wurster-Hill D H
Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, NH 03756.
Am J Med Genet. 1991 Jun 1;39(3):362-6. doi: 10.1002/ajmg.1320390322.
We report on an infant with multiple congenital anomalies possessing a derivative 14 chromosome in excess of the normal complement, resulting from transmission of a familial t(5;14)(p13;q22). The proposita's phenotypically normal mother, mentally retarded half-brother, and fetal sib are carriers of the apparently balanced translocation. Previous cases of similar familial t(5;14) are reviewed. The proposita's phenotype is characterized by failure to thrive, developmental retardation, cleft palate, congenital heart anomaly, abnormal hands and feet, unusual face with abnormal ears, and recurrent respiratory infections. The proposita died at age 9 months and postmortem examination showed multiple central nervous system, cardiopulmonary, gastrointestinal, and genital malformations. Our proposita's phenotype is attributable to contributions from both chromosomes and is consistent with the consequences of both the dup(5p) and dup(14q).
我们报告了一名患有多种先天性异常的婴儿，其拥有一条超过正常数量的衍生14号染色体，这是由家族性t(5;14)(p13;q22)的传递所致。先证者表型正常的母亲、智力发育迟缓的同父异母兄弟以及胎儿同胞均为明显平衡易位的携带者。对既往类似家族性t(5;14)的病例进行了回顾。先证者的表型特征为生长发育迟缓、发育迟缓、腭裂、先天性心脏异常、手足异常、面容异常伴耳朵畸形以及反复呼吸道感染。先证者于9个月龄时死亡，尸检显示存在多个中枢神经系统、心肺、胃肠道及生殖系统畸形。我们先证者的表型归因于两条染色体的作用，与dup(5p)和dup(14q)的结果一致。
