Document Detail


Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms.
MedLine Citation:
PMID:  17075795     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 alpha-fetoprotein and beta-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.
Authors:
Kamran Moradkhani; Jacques Puechberty; Patricia Blanchet; Christine Coubes; Hakima Lallaoui; Patricia Lewin; Genevieve Lefort; Pierre Sarda
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2006-11-27     Completed Date:  2007-02-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  1179-82     Citation Subset:  IM    
Copyright Information:
2006 John Wiley & Sons, Ltd.
Affiliation:
Department of Medical Genetics, Chu Montpellier, France.
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MeSH Terms
Descriptor/Qualifier:
Abortion, Induced
Adult
Amniocentesis
Chorionic Gonadotropin, beta Subunit, Human / blood
Chromosome Disorders / diagnosis,  etiology,  genetics*,  ultrasonography
Chromosomes, Human, Pair 16*
Female
Fetal Diseases / diagnosis,  genetics
Fetal Growth Retardation / genetics
Humans
Karyotyping
Male
Mosaicism*
Phenotype
Pregnancy
Prenatal Diagnosis / methods
Trisomy*
alpha-Fetoproteins / analysis
Chemical
Reg. No./Substance:
0/Chorionic Gonadotropin, beta Subunit, Human; 0/alpha-Fetoproteins

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