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Three new cases with a supernumerary ring chromosome 1.
Laura Rodríguez1, Heike Starke, Nieves Martínez Guardia
1Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain Institute of Human Genetics and Anthropology, Jena, Germany Hospital de Leganés, Madrid, Spain Institute of Human Genetics, Charité, Campus Virchow, Berlin, Germany Practice of Clinical Genetics, Düsseldorf, Germany Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Dpto de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
Clinical Dysmorphology
|September 13, 2005
Summary
This study details three cases of a rare ring chromosome 1 (r(1)) involving euchromatin from chromosome 1
Area of Science:
- Human Genetics
- Cytogenetics
- Molecular Biology
Background:
- Ring chromosomes are rare structural abnormalities.
- Ring chromosome 1 (r(1)) involving euchromatin from the long arm (1p11.1-q21.1) is exceptionally uncommon.
- Understanding the clinical spectrum of r(1) is crucial for genetic counseling.
Observation:
- Three cases with a cytogenetically identical r(1) (1p11.1-q21.1) are presented.
- Two cases were newborn males, and one was a female identified prenatally.
- Mosaicism for the r(1) was observed in all cases, with varying percentages (48%, 25%, 14%).
Findings:
- Clinical presentations varied significantly among the three individuals with r(1) mosaicism.
- The specific breakpoints and degree of mosaicism may influence phenotypic expression.
- Comparison with existing literature highlights the heterogeneous clinical outcomes.
Implications:
- This report expands the understanding of r(1) (1p11.1-q21.1) genetic variations.
- It underscores the importance of cytogenetic analysis in diagnosing rare chromosomal disorders.
- Further research is needed to correlate genotype with phenotype in r(1) mosaicism.