192 Chin Med J2013: 126(1) A 4 G c M Figure 1. Characteristic features of the CdlS patient and sequencing of the NIPBL gene. A: Arch-like confluent eyebrows, long thick eyelashes, anteverted nares, collapsed nasal bridge, downtuned comers of the mouth, thin lips and low-set ears. B: Upper-limb abnomalities. C: Chromographs of the partial CDNA sequence of NPBL from the patient (upper)and a healthy individual (lower) showing a heterozygous 4-base deletion in exon 44(. 7423 7426delGACA)(black arrow) Xu W-Z,., Zhang X-n". A novel de novo mutation of the nipbl gene in an isolated Chinese patient with Cornelia de lange syndrome. Chinese medical Journa,2013;126(1):191-192Xu W-Z, ..., Zhang X-N*. A novel de novo mutation of the NIPBL gene in an isolated Chinese patient with Cornelia de Lange syndrome. Chinese Medical Journal, 2013;126(1):191-192