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Prenatal diagnosis of trisomy 1q21‐qter: Case report and review of literatureAmerican Journal of Medical Genetics Part A, 134A
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 of Clinical Ultrasound – Wiley
Published: May 1, 2008
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