Prenatal diagnosis of complete sole trisomy 1q

The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-te mporal narrowing, a single choroid plexus cyst, and mild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gest ation. A literature review is presented of 17 de novo and two inherited cas es with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1 q trisomies have teratomas. A review of the literature reveals a dismal out come for trisomy 1q cases if the duplication involves bands 1q25-->q32. Cop yright (C) 2001 John Wiley & Sons, Ltd.