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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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. CASE: 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. CONCLUSION: 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.[1]


  1. Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation. Gul, A., Cebeci, A., Erol, O., Ceylan, Y., Basaran, S., Yuksel, A. Obstetrics and gynecology. (2005) [Pubmed]
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