Howard-Peebles P N, Goldsmith J P
Hum Hered. 1980;30(2):84-8. doi: 10.1159/000153107.
A balanced carrier mother with a t(2;9) (q31;p24) had a son with partial duplication of the long arm of chromosome 2(q31 leads to qter). A comparison of this child with other cases from the literature suggests that hypertelorism, a short nose, a broad nasal bridge, low-set ears, micrognathia, clinodactyly, a short neck and muscular hypotonia are characteristic phenotypic features of individuals having a duplication of 2q31 leads to qter.
一位携带t(2;9) (q31;p24)平衡易位的母亲生育了一个儿子，其2号染色体长臂（q31至qter）存在部分重复。将这个孩子与文献中其他病例进行比较表明，睑裂增宽、短鼻、鼻梁宽、耳低位、小颌、小指内弯、短颈和肌张力减退是2q31至qter重复个体的特征性表型特征。
