Telford N, Thomson D A, Griffiths M J, Ilett S, Watt J L
Regional Cytogenetics Unit, Birmingham Maternity Hospital, Edgbaston.
J Med Genet. 1990 Apr;27(4):261-3. doi: 10.1136/jmg.27.4.261.
A mildly dysmorphic, 2 year old girl with mental retardation was found to have a small de novo terminal deletion of the long arm of chromosome 14, del(14)(q32.3). She was found to have features in common with two previous terminal deletion cases and particularly with the well documented ring 14 syndrome, although seizures, a characteristic feature of ring 14, were notably absent.
一名轻度畸形、智力发育迟缓的2岁女童被发现有14号染色体长臂的一个小的新发末端缺失，即del(14)(q32.3)。发现她具有与之前两个末端缺失病例相同的特征，特别是与记录详尽的14号染色体环综合征相同的特征，尽管14号染色体环综合征的典型特征癫痫在她身上明显不存在。
