1q部分三体综合征
Partial trisomy 1q syndrome.
作者信息
Rehder H, Friedrich U
出版信息
Clin Genet. 1979 Jun;15(6):534-40. doi: 10.1111/j.1399-0004.1979.tb00838.x.
Abstract
Six cases of partial trisomy 1q, including four cases from the literature and our own two observations are summarized with respect to their clinical symptoms. Distinct similarities of the external aspect and of internal malformations allow the delineation of a syndrome of partial trisomy 1q.
摘要
总结了6例1q部分三体综合征病例，包括文献中的4例以及我们自己观察到的2例，阐述了其临床症状。患者外观及内部畸形存在明显相似性，由此勾勒出1q部分三体综合征。
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