Prenatal diagnosis of complete sole trisomy 1q.


Journal Article (Review)

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.

Full Text

Duke Authors

Cited Authors

  • Pettenati, MJ; Berry, M; Shashi, V; Hartley Bowen, J; Harper, M

Published Date

  • June 2001

Published In

Volume / Issue

  • 21 / 6

Start / End Page

  • 435 - 440

PubMed ID

  • 11438944

Pubmed Central ID

  • 11438944

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/pd.64


  • eng

Conference Location

  • England