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Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat
Mary Ann Thomas1, Alessandra M V Duncan, Claudette Bardin
1F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Department of Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada.
American Journal of Medical Genetics. Part A
|January 7, 2004
Summary
This study details a rare case of lissencephaly caused by a unique maternal translocation between chromosomes 17p and 20p. The findings expand understanding of genetic conditions leading to lissencephaly and associated developmental anomalies.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Lissencephaly, a brain malformation, is often linked to LIS1 gene mutations or 17p13.3 microdeletions.
- Miller-Dieker syndrome (MDS) is a common presentation of 17p13.3 deletions.
- Some deletions involve derivative chromosome 17 from parental balanced translocations.
Observation:
- A case of lissencephaly is presented with a maternally inherited unbalanced translocation.
- The translocation involves chromosome arms 17p and 20p, causing partial 17p monosomy and 20p trisomy.
- This is the first reported reciprocal translocation between 17p and 20p.
Findings:
- The patient exhibits features of MDS and trisomy 20p.
- Unique anomalies not previously associated with MDS or trisomy 20p were observed.
- The genetic imbalance is partial monosomy 17p13.3-->pter and partial trisomy 20p12.2-->pter.
Implications:
- This case expands the known spectrum of genetic causes for lissencephaly.
- It contributes to delineating the phenotype associated with partial 17p monosomy and 20p trisomy.
- Further research may clarify genotype-phenotype correlations in complex chromosomal rearrangements.