Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms
Authors:
- 1 December 2006
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 26 (12) , 1179-1182
Abstract
Objectives This study was undertaken to discuss the workup of trisomy 16 pregnancies. Study Design This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34‐year‐old woman who showed elevated maternal serum α‐fetoprotein and β‐HCG at a gestational age (GA) of 15.5 weeks. Results Amniotic fluid (AF) karyotyping at different GAs revealed various levels of trisomy 16 mosaicism (0 to level III). UPD studies at 21 weeks of gestation revealed maternal heterodisomy 16. Serial fetal ultrasonography showed fetal abnormalities: intrauterine growth restriction (IUGR), dilated digestive tract, and gallbladder agenesis. Postmortem examination confirmed the prenatal findings and revealed additional anomalies, such as hypoplastic cerebellum with abnormal gyration of the vermis. Conclusions Workup following prenatal detection of trisomy 16 mosaicism in chorionic villi must include AF karyotyping and serial ultrasound examination of the fetus in order to approach postnatal developmental prognosis. Copyright © 2006 John Wiley & Sons, Ltd.Keywords
This publication has 12 references indexed in Scilit:
- Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updatedAmerican Journal of Medical Genetics Part A, 2005
- Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicismJournal of Medical Genetics, 2003
- Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new casesAmerican Journal of Medical Genetics, 1998
- Trisomy 16 and trisomy 16 mosaicism: A reviewAmerican Journal of Medical Genetics, 1998
- The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babiesAmerican Journal of Obstetrics and Gynecology, 1997
- TRISOMY 16 MOSAICISM IN AMNIOTIC FLUID CELL CULTURESPrenatal Diagnosis, 1996
- Risk factors for neonatal sepsisObstetrics & Gynecology, 1996
- An audit of trisomy 16 in manPrenatal Diagnosis, 1995
- Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal livebornsPrenatal Diagnosis, 1994
- Human maternal uniparental disomy for chromosome 16 and fetal developmentPrenatal Diagnosis, 1994