Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3-->qter) and partial monosomy 17p (p13.3-->pter).
OBJECTIVE
Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet.


METHODS
A 33-year-old, G5, P2 woman with a singleton pregnancy was referred to our clinic at 24 weeks of gestation for further evaluation of a fetal sacral exophytic mass. Detailed fetal sonographic examination together with chromosomal analysis by amniocentesis was performed.


RESULTS
The scan revealed a large SCT together with a persistent right umbilical vein, cardiomegaly, bilateral mild hydronephrosis and intrauterine growth retardation. The fetal karyotype showed distal 10q trisomy (10q24.3-->qter) distal monosomy 17 (p13-->pter). The fetus died after a preterm delivery at 28 weeks of gestation. Postnatal examination confirmed the prenatal findings and added the typical facial features of this syndrome, which consisted of prominent forehead, small nose with depressed nasal bridge, micrognathia and bow-shaped mouth.


CONCLUSIONS
This case provides further evidence of a possible association between chromosomal aberrations in SCTs.
Batukan
Cem
C
Department of Obstetrics and Gynecology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. cbatukan@erciyes.edu.tr
Ozgun
Mahmut Tuncay
MT
Basbug
Mustafa
M
Caglayan
Okay
O
Dundar
Munis
M
Murat
Nurcan
N
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002886:Chromosomes, Human, Pair 17; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012445:Sacrococcygeal Region; D013125:Spinal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D013724:Teratoma / Q000175:diagnosis* / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis*