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Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin
Annales De Genetique
|January 1, 1981
Insights
This study describes a child with two cell lines involving chromosome 18 abnormalities, suggesting a common origin. Clinical features align with known 18p-, 18q-, and trisomy 18 syndromes.
Area of Science:
- Genetics
- Human Genetics
- Cytogenetics
Background:
- Chromosome 18 abnormalities are associated with distinct clinical syndromes.
- Ring 18 and isodicentric 18 chromosomes can lead to complex genetic conditions.
Observation:
- A child presented with two distinct cell lines: one with a ring 18 chromosome and another with an isodicentric 18 chromosome and a suppressed centromere.
- The presence of two cell lines suggests a mosaic state or a complex chromosomal rearrangement.
Findings:
- A hypothesis for a common origin of the ring 18 and isodicentric 18 cell lines is proposed and evaluated.
- The child's clinical presentation exhibited features overlapping with 18p-, 18q-, and trisomy 18 syndromes.
Implications:
- Understanding the origin of complex chromosomal rearrangements is crucial for genetic counseling.
- This case highlights the phenotypic variability and overlap in chromosome 18-related disorders.
Abstract:
A child with two cell lines, one with a ring 18 and the other with an isodicentric 18 with a suppressed centromere is described. A hypothesis that could account for a common origin of the two cell lines is presented and discussed. The clinical features of this child were compatible with some of the features for each of the syndromes of 18p-, 18q-, and trisomy 18 as described in the literature.