In:
Prenatal Diagnosis, Wiley, Vol. 22, No. 12 ( 2002-12), p. 1063-1066
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2002
detail.hit.zdb_id:
1491217-X
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