Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms.

Prenat Diagn 2006 Dec;26(12):1179-82

Department of Medical Genetics, Chu Montpellier, France.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1585DOI Listing
December 2006
5 Reads

Publication Analysis

Top Keywords

trisomy mosaicism
8
prenatal detection
8
mosaic trisomy
8
karyotyping gas
4
fluid karyotyping
4
amniotic fluid
4
gas revealed
4
cerebellum abnormal
4
levels trisomy
4
level iii
4
iii upd
4
hypoplastic cerebellum
4
mosaicism level
4
weeksresults amniotic
4
revealed levels
4
abnormal gyration
4
detection trisomy
4
agenesis postmortem
4
serum alpha-fetoprotein
4
maternal serum
4

References

(Supplied by CrossRef)

Benn et al.
Am J Med Genet 1998

Eggermann et al.
Genet Couns 2004

Hsu et al.
Am J Med Genet 1998

Johnson et al.
Prenat Diagn 2000

Kotzot et al.
Am J Med Genet A 2005

Langlois et al.
2005

Moore et al.
Am J Obstet Gynecol 1997

Pletcher et al.
Prenat Diagn 1994

Sanchez et al.
Prenat Diagn 1997

Tantravahi et al.
Prenat Diagn 1996

Vaughan et al.
Prenat Diagn 1994

Similar Publications