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  • Title: Prenatal diagnosis of complete sole trisomy 1q.
    Author: Pettenati MJ, Berry M, Shashi V, Hartley Bowen J, Harper M.
    Journal: Prenat Diagn; 2001 Jun; 21(6):435-40. PubMed ID: 11438944.
    Abstract:
    The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-temporal 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' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome for trisomy 1q cases if the duplication involves bands 1q25-->q32.
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