Hreidarsson S J, Stamberg J
J Med Genet. 1983 Apr;20(2):147-9. doi: 10.1136/jmg.20.2.147.
A 12-year-old boy with congenital heart disease, short stature, mildly dysmorphic facies, and mild intellectual impairment was found to have a de novo terminal deletion (14)(q32.3). Although his phenotype resembles that of six reported patients with a similar breakpoint, his CNS involvement is milder. He appears to be the first reported case of a terminal deletion of chromosome 14 not associated with ring 14 formation. Advanced parental ages and maternal origin of the chromosome with the deletion are noted.
一名患有先天性心脏病、身材矮小、面部轻度畸形和轻度智力障碍的12岁男孩被发现有一个新发的14号染色体末端缺失（14）（q32.3）。尽管他的表型与6例报道的具有相似断点的患者相似，但他的中枢神经系统受累较轻。他似乎是首例报道的与14号环状染色体形成无关的14号染色体末端缺失病例。还注意到父母年龄较大以及缺失染色体的母系起源。
