Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female child.
Trisomy 12 mosaicism is a rare chromosomal mosaicism in prenatal diagnosis by amniocentesis. In the literature we found at least 27 cases. 13 Pregnancies were terminated, with multiple congenital anomalies (MCA) in 2 out of 13. Of the 12 liveborns with follow-up ranging from 0 to 5 years, 5 presented MCA and died within the first weeks. 2 Fetus died during pregnancy and further data are lacking. A normal outcome, with limited follow up however, was reported in 7/12 liveborns without congenital anomalies and is well demonstrated in the presently reported girl. We describe the 3-years follow up in a girl with trisomy 12 mosaicism, detected by amniocentesis for advanced maternal age. She is a healthy girl with normal physical and psychomotor development.
Staals
J E A
JE
Department of Clinical Genetics, Academic hospital Maastricht, Maastricht, The Netherlands.
Schrander-Stumpel
C T R M
CT
Hamers
G
G
Fryns
J P
JP
D000328:Adult; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics*