Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q.
Partial duplication of the long arm of chromosome 1 has been observed in fetal intracranial teratomas. We sonographically diagnosed a 19-week fetus with sacrococcygeal teratoma, cerebral ventriculomegaly, and cerebellar hypoplasia. Chromosomal analysis of amniocytes showed an unbalanced translocation between chromosomes 1 and 15, resulting in trisomy 1q21-->1 qter. Duplication or over expression at more than one locus on the long arm of chromosome 1 may be required for the development of an extra-gonadal teratoma.
Wax
J R
JR
Department of Obstetrics and Gynecology, Hartford Hospital, Connecticut 06102-5037, USA.
Benn
P
P
Steinfeld
J D
JD
Ingardia
C J
CJ
D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D012445:Sacrococcygeal Region / Q000473:pathology*; D013724:Teratoma / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal