Toomey K E, Mohandas T, Sparkes R S, Kaback M M, Rimoin D L
J Med Genet. 1978 Oct;15(5):382-7. doi: 10.1136/jmg.15.5.382.
The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.
13号染色体13q21至13q22片段的间质性缺失，及其在断点q12处倒位并插入3号染色体长臂，在一个家族的三代人中被发现呈分离状态。这种三断点重排的分离导致了涉及片段的单体、三体或平衡个体。13q21至13q22的单体与智力发育迟缓、表达性失语、小头畸形、手部异常和身材矮小有关。部分三体个体智力正常，腭弓极高，有轻度畸形特征。在所检查的个体中没有视网膜母细胞瘤的证据。平衡携带者正常。将单体个体与之前一份类似缺失报告进行比较，发现有明显的表型相似性。
