An unusual mosaic karyotype detected through prenatal diagnosis with duplication of 1q and 19p and associated teratoma development.
A 40-year-old white woman underwent amniocentesis for advanced maternal age at 15.4 weeks gestation. Fetal chromosome analysis demonstrated two distinct cell lines: [46,XX,t(1;19)(p11;p11)]--10%; and [47,XX,t(1;19)(p11;p11) + der(1)t(1;19)(p11;q11)]--90%. The latter karyotype was trisomic for both 1q and 19p. The mother carried the balanced translocation; the father had a normal karyotype. Amniotic fluid alpha-fetoprotein level was elevated and an acetylcholinesterase band was detected. Level II ultrasonography at 17 and 24 weeks revealed several abnormalities, including a large facial cleft and a probable facial teratoma and intracranial tumor. Autopsy following pregnancy termination confirmed the presence of both. Chromosome evaluation of 172 metaphases of both the epignathus and the intracranial teratoma demonstrated a predominance of the cell line with 47 chromosomes (166/172 = 96.5%), while from nonteratoma tissue (lung, liver, skin, and brain) only the balanced karyotype was detected. These observations suggest that the chromosomal imbalance is instrumental in the etiology of the teratoma.
Schwartz
S
S
Department of Obstetrics and Gynecology, University of Maryland, Baltimore 21201.
Raffel
L J
LJ
Sun
C C
CC
Waters
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure*; D002888:Chromosomes, Human, Pair 19 / Q000648:ultrastructure*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D009030:Mosaicism; D009378:Neoplasms, Multiple Primary / Q000196:embryology* / Q000235:genetics; D010157:Palatal Neoplasms / Q000196:embryology* / Q000235:genetics; D012888:Skull Neoplasms / Q000196:embryology* / Q000235:genetics; D013724:Teratoma / Q000196:embryology* / Q000235:genetics; D014314:Trisomy; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins