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Prenatal sonographic features of trisomy 1q

Prenatal sonographic features of trisomy 1q We describe the sonographic features of trisomy 1q in 2 affected fetuses and identify 17 other published reports of this entity in the literature. Four of 5 (80%) diagnoses made at ≤14 weeks' gestation demonstrated increased nuchal translucency or cystic hygroma colli. During the second and third trimesters, findings included cerebral ventriculomegaly (n = 8 (57%)), nuchal skin fold ≥6 mm or cystic hygroma colli (n = 5 (36%)), urinary anomalies (n = 5 (36%)), digit malformations (n = 5 (36%)), and abnormal amniotic fluid volume (n = 6 (40%)). Findings in trisomy 1q may be influenced by coexisting chromosomal deletions or mosaicism. Sonographic features generally reflect the location and size of the 1q duplication. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Clinical Ultrasound Wiley

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References (19)

Publisher
Wiley
Copyright
Copyright © 2007 Wiley Periodicals, Inc.
ISSN
0091-2751
eISSN
1097-0096
DOI
10.1002/jcu.20371
pmid
17661383
Publisher site
See Article on Publisher Site

Abstract

We describe the sonographic features of trisomy 1q in 2 affected fetuses and identify 17 other published reports of this entity in the literature. Four of 5 (80%) diagnoses made at ≤14 weeks' gestation demonstrated increased nuchal translucency or cystic hygroma colli. During the second and third trimesters, findings included cerebral ventriculomegaly (n = 8 (57%)), nuchal skin fold ≥6 mm or cystic hygroma colli (n = 5 (36%)), urinary anomalies (n = 5 (36%)), digit malformations (n = 5 (36%)), and abnormal amniotic fluid volume (n = 6 (40%)). Findings in trisomy 1q may be influenced by coexisting chromosomal deletions or mosaicism. Sonographic features generally reflect the location and size of the 1q duplication. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008

Journal

Journal of Clinical UltrasoundWiley

Published: May 1, 2008

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