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Updated: May 9, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Pure duplication of 19p13.3.
Aki Ishikawa1, Keisuke Enomoto, Makiko Tominaga
1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
American Journal of Medical Genetics. Part A
|July 31, 2013
Summary
A rare chromosomal abnormality, a 19p13.3 duplication, caused severe developmental delays and distinct facial features in a young girl. This finding suggests a new chromosomal syndrome linked to 19p13.3 duplications.
Area of Science:
- Genetics
- Human Genetics
- Chromosomal Abnormalities
Background:
- Chromosomal abnormalities are a known cause of developmental disorders.
- Specific chromosomal regions, like 19p13.3, are less frequently associated with distinct phenotypes in published literature.
Observation:
- A patient presented with a pure terminal duplication of 6.1 Mb on chromosome 19p13.3.
- This duplication resulted from an unbalanced translocation: der(19)t(10;19)(qter;p13.3)dn.
- The patient exhibited severe psychomotor developmental delay, skeletal malformations, and a characteristic facial appearance.
Findings:
- The observed phenotype in the patient is similar to a previously reported case with a 19p13.3 abnormality.
- A duplication of greater than 3 Mb at the 19p13.3 terminus appears to be a significant factor in the observed clinical presentation.
Implications:
- The findings suggest that a duplication of >3 Mb at the terminus of 19p13.3 may constitute a distinct chromosomal syndrome.
- Further research into 19p13.3 duplications can improve diagnosis and understanding of related developmental disorders.
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