Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation.
BACKGROUND
Partial deletion of the long arm of the chromosome 13 is a rare chromosomal aberration and may present with microcephaly, colobomata, microphthalmia, distal limb and digital anomalies, cardiac defects, brain and urogenital malformations, anal atresia and growth restriction.


METHODS
We report such a case in 25th week of gestation referred for sonographic examination which revealed growth restriction, microcephaly, Dandy-Walker malformation, right microphthalmia, micrognathia, marked nuchal edema, four fingers-oligodactyly in feet and in hands with thumb aplasia and ambiguous genitalia. Chromosome analysis identified chromosome 13q deletion [46 XY del (13) (13q31.2/q32.1 --> qter)]. Postmortem examination confirmed prenatal findings and showed aniridia, low-set ears, cryptorchidism, and anal atresia.


CONCLUSIONS
Detection of Dandy-Walker malformation, microphthalmia, oligodactyly with thumb aplasia and growth restriction during prenatal ultrasonography should be a reminder of deletion of chromosome 13q and warrant cytogenetic analysis.
Gul
Ahmet
A
Maternal and Fetal Unit, Department of Obstetrics and Gynecology, Istanbul SSK Bakirkoy Women and Children Hospital, Instanbul, Turkey. ahmetgul@ttnet.net.tr
Cebeci
Altan
A
Erol
Onur
O
Ceylan
Yavuz
Y
Basaran
Seher
S
Yuksel
Atil
A
D000015:Abnormalities, Multiple; D000032:Abortion, Therapeutic; D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D003616:Dandy-Walker Syndrome / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D018570:Risk Assessment; D012720:Severity of Illness Index; D016216:Ultrasonography, Prenatal