Related Experiment Videos
Dandy-Walker malformation in an infant with tetrasomy 9p
María R Cazorla Calleja1, Alfonso Verdú, Valentin Félix
1Neuropediatric Unit, Hospital Virgen de la Salud, Avenida de Barber 30, 45004 Toledo, Spain. rcazorla@cht.insalud.es
Brain & Development
|April 12, 2003
Summary
This report details an infant with Dandy-Walker malformation and tetrasomy 9p mosaicism. The findings suggest a link between this chromosomal disorder and Dandy-Walker malformation in infants with developmental abnormalities.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Dandy-Walker malformation is a congenital brain defect.
- Tetrasomy 9p is a rare chromosomal abnormality.
- Prenatal diagnosis of chromosomal abnormalities is crucial.
Observation:
- A case report of an infant diagnosed prenatally with tetrasomy 9p and Dandy-Walker malformation.
- Chromosomal analysis revealed true mosaicism: 50% normal female karyotype (46,XX) and 50% isochromosome 9p.
- Postnatal analysis confirmed mosaicism in peripheral blood lymphocytes (75% abnormality).
Findings:
- Phenotypic features included intrauterine growth retardation, left-sided body hypotrophy, left microphthalmus, and progressive hydrocephalus.
- The hydrocephalus was secondary to the Dandy-Walker malformation.
- This case, along with prior reports, suggests a potential association between tetrasomy 9p and Dandy-Walker malformation.
Implications:
- The study highlights the importance of considering tetrasomy 9p in infants presenting with Dandy-Walker malformation and abnormal somatic development.
- Genetic screening for chromosomal abnormalities is recommended in such cases.
- Further research is warranted to elucidate the relationship between tetrasomy 9p and Dandy-Walker malformation.