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Tandem Y/6 translocation with partial deletion 6 (p23----pter)
P C Kelly1, W W Blake, J R Davis
1Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington.
Clinical Genetics
|September 1, 1989
Insights
A rare Y chromosome translocation in an infant caused multiple malformations due to partial 6p23 deletion. This genetic condition mimics effects seen in ring chromosome 6 cases.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Congenital malformations can arise from complex chromosomal abnormalities.
- Tandem translocations, especially involving sex chromosomes and autosomes, are rare and can lead to unique phenotypic outcomes.
- Understanding the genetic basis of malformations is crucial for diagnosis and management.
Abstract:
An infant with multiple malformations had a de novo tandem translocation of the Y chromosome to chromosome 6. The karyotype 45,X,tan(Y;6) (q12;p23) resulted in a partial monosomy of 6p23----pter. Many of the effects of ring chromosome 6 are present in this case.