Carr D M, Jones-Quartey K, Vartanian M V, Moore-Kaplan H
J Med Genet. 1987 Jun;24(6):372-4. doi: 10.1136/jmg.24.6.372.
A 29 year old black female with delayed development and multiple congenital anomalies showing a duplication of 14(q31----qter) is presented. Although clinical features associated with partial duplication of the distal long arm of chromosome 14 are variable, there are some features which are distinctive of this chromosomal abnormality. The clinical findings of 14 cases with duplication distal 14q are compared in an effort to define a recognisable syndrome.
本文报告了一名29岁的黑人女性，其发育迟缓且有多种先天性异常，显示出14号染色体（q31----qter）重复。虽然与14号染色体长臂远端部分重复相关的临床特征各不相同，但仍有一些特征是这种染色体异常所特有的。对14例14q远端重复患者的临床发现进行了比较，以确定一种可识别的综合征。
