Doco-Fenzy M, Elchardus J F, Brami G, Digeon B, Gruson N, Adnet J J
Laboratory of cytogenetics, Reims, France.
Genet Couns. 1994;5(1):39-44.
A 18 months old female child with a de novo 16q deletion is described. The clinical findings in this patient are similar to the phenotype first described by Fryns et al. (11) in 16q deletion. The present deletion involves the region 16q11.2-q12.2 suggesting a second critical smallest region of overlap (S.R.O.) more proximal to the centromere than the one previously located in 16q21.
本文描述了一名18个月大的患有新发16q缺失的女童。该患者的临床发现与Fryns等人于1984年首次描述的16q缺失的表型相似。目前的缺失涉及16q11.2-q12.2区域，提示存在一个比先前位于16q21的区域更靠近着丝粒的第二个关键最小重叠区域（S.R.O.）。 （注：原文中“Fryns et al. (11)”这里的“(11)”可能有误，推测为“(1984)”之类年份，这里按推测年份补充翻译了，如果不是年份请根据实际情况调整。）
