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Pettenati MJ, Berry M, Shashi V, et al. Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn. 2001;21(6):435-40doi: 10.1002/pd.64.
Pettenati, M. J., Berry, M., Shashi, V., Hartley Bowen, J., & Harper, M. (2001). Prenatal diagnosis of complete sole trisomy 1q. Prenatal diagnosis, 21(6), 435-40. https://doi.org/10.1002/pd.64
Pettenati, M J, et al. "Prenatal diagnosis of complete sole trisomy 1q." Prenatal diagnosis vol. 21,6 (2001): 435-40. doi: https://doi.org/10.1002/pd.64
Pettenati MJ, Berry M, Shashi V, Hartley Bowen J, Harper M. Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn. 2001 Jun;21(6):435-40. doi: 10.1002/pd.64. PMID: 11438944.
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Prenat Diagn. 2001 Jun;21(6):435-40. doi: 10.1002/pd.64.

Prenatal diagnosis of complete sole trisomy 1q.

Prenatal diagnosis

M J Pettenati, M Berry, V Shashi, J Hartley Bowen, M Harper

Affiliations

  1. Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.

PMID: 11438944 DOI: 10.1002/pd.64

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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