Sklower S L, Jenkins E C, Nolin S L, Duncan C J, Warburton D, Yeboa K A, Merkrebs A, Schwartz R, Wisniewski K, Stimson C
Hum Genet. 1984;68(2):159-64. doi: 10.1007/BF00279307.
Three cases of distal duplication 14q are presented. The first two cases are cousins in a kindred segregating a balanced translocation t(14;18)(q31;q23). The third case resulted from a maternal translocation t(14;18)(q24;p11). By review of these cases and those previously reported, a distal duplication 14q syndrome is further delineated. Common features include postnatal growth retardation, mental retardation, hypotonia, microcephaly, slanted palpebral fissures, ocular hypertelorism, sparse eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies.
本文报告了3例14q远端重复病例。前两例是一个家系中的堂兄弟，该家系存在平衡易位t(14;18)(q31;q23)。第三例是由母亲的易位t(14;18)(q24;p11)导致的。通过对这些病例以及先前报道病例的回顾，进一步明确了14q远端重复综合征。常见特征包括出生后生长发育迟缓、智力障碍、肌张力低下、小头畸形、睑裂倾斜、眼距增宽、睫毛和眉毛稀疏、鼻畸形、唇呈帐篷状、小颌畸形、耳向后旋转以及轻微的骨骼异常。
