Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion
Journal
Prenatal Diagnosis
Journal Volume
22
Journal Issue
12
Pages
1063-1066
Date Issued
2002
Author(s)
Chen C.-P.
Chang T.-Y.
Lin S.-P.
Lin C.-J.
Wang W.
Lee C.-C.
Town D.-D.
Pan C.-W.
Tzen C.-Y.
Abstract
Objectives: To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion. Methods and results: Amniocentesis was performed at 17 gestational weeks due to a balanced reciprocal translocation t(9;12)(p11.2;p13.3) in the mother. The father's karyotype was normal. The family had a 5-year-old daughter with a Dandy-Walker malformation and a trisomy 9p syndrome. Cytogenetic analysis of the cultured amniotic fluid cells revealed a 46,XY,der(12)t(9;12)(p11.2;p13.3)mat karyotype with partial monosomy 12p(12pter→p13.3) and partial trisomy 9p(9pter→p11.2). Sonographic examination of the fetal brain and skull showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enlarged cisterna magna and absence of the cerebellar vermis. The pregnancy was terminated subsequently. At autopsy, the proband manifested agenesis of the cerebellar vermis and a typical trisomy 9p phenotype. Conclusion: Fetuses with partial trisomy 9p(9pter→p11.2) may present a Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. A dosage effect of genes located on 9pter→p11.2 may be associated with the abnormal development of the central nervous system in patients with partial or complete trisomy 9. Copyright ? 2002 John Wiley & Sons, Ltd.
SDGs
Other Subjects
adult; agenesis; amniocentesis; amnion cell; article; autopsy; brachycephaly; case report; cell culture; central nervous system; cerebellum; cerebellum vermis; chromosome 12p; chromosome 9p; cisterna magna; cytogenetics; Dandy Walker syndrome; disease association; female; fetus; fetus development; gene deletion; gene dosage; gene location; gene translocation; gestational age; human; karyotype; monosomy; partial trisomy 9; phenotype; pregnancy termination; prenatal diagnosis; priority journal; second trimester pregnancy; ultrasound; brain; chromosome 12; chromosome 9; chromosome banding pattern; chromosome deletion; congenital malformation; Dandy Walker syndrome; echography; genetics; heart ventricle; pathology; pregnancy; trisomy; Adult; Amniocentesis; Brain; Cells, Cultured; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 9; Dandy-Walker Syndrome; Female; Gestational Age; Heart Ventricles; Humans; Pregnancy; Trisomy; Ultrasonography, Prenatal
Type
journal article