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Holoprosencephaly and chromosomal anomalies
1Department of Maternal Fetal Medicine, Kandang Kerbau Hospital, Singapore.
Singapore Medical Journal
|August 1, 1996
Summary
Holoprosencephaly, a rare brain malformation, involves incomplete forebrain cleavage. This study correlates clinicopathological findings with chromosomal anomalies in seven cases, including trisomy 13 and triploidy.
Area of Science:
- Neurology
- Genetics
- Developmental Biology
Background:
- Holoprosencephaly is a congenital brain malformation characterized by failed or incomplete forebrain cleavage.
- Sonographic hallmarks include monoventricle, fused thalami, and absent cavum septum pellucidi.
- Etiologies implicated include chromosomal anomalies, maternal diabetes, alcohol exposure, and genetic factors.
Purpose of the Study:
- To describe seven cases of holoprosencephaly diagnosed antenatally and postnatally.
- To correlate clinicopathological findings with identified chromosomal anomalies.
Main Methods:
- Case series review of seven patients diagnosed with holoprosencephaly.
- Sonographic evaluation for characteristic malformations.
- Karyotyping and chromosomal analysis to identify genetic abnormalities.
Main Results:
- Seven cases of holoprosencephaly were identified and analyzed.
- Associated chromosomal anomalies included trisomy 13, triploidy, trisomy 13 with 13;14 translocation, and isochromosome 18q.
- Clinicopathological data were correlated with these genetic findings.
Conclusions:
- Holoprosencephaly presents with diverse sonographic features and significant genetic variability.
- Chromosomal abnormalities are frequently associated with holoprosencephaly, impacting prognosis and management.
- Detailed clinicopathological and genetic correlation is crucial for understanding this complex malformation.