Abstract |
Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.
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Authors | Y A Bureau, W Fraser, B Fouquet |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 13
Issue 2
Pg. 79-85
(Feb 1993)
ISSN: 0197-3851 [Print] England |
PMID | 8464839
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adult
- Amniocentesis
- Brain
(abnormalities, embryology)
- Cerebellum
(abnormalities, diagnostic imaging, embryology)
- Chromosomes, Human, Pair 9
- Dandy-Walker Syndrome
(diagnosis, genetics)
- Female
- Fetal Diseases
(diagnosis, genetics)
- Humans
- Infant, Newborn
- Karyotyping
- Magnetic Resonance Imaging
- Male
- Mosaicism
- Pregnancy
- Pregnancy Trimester, Third
- Trisomy
- Ultrasonography, Prenatal
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