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Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.

E Goossens¹, P Decock, S Potgieter

¹Center for Human Genetics, University of Leuven, Belgium.

Genetic Counseling (Geneva, Switzerland)

|July 28, 1999

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A proximal duplication in chromosome 15 (15q11-15q13) was identified in a boy with developmental delay and seizures. This genetic finding occurred in mosaic form alongside a normal cell line.

Area of Science:

Human Genetics
Chromosomal Abnormalities
Developmental Biology

Background:

Chromosome 15 duplications are rare genetic alterations.
Mosaicism involves the presence of two or more cell lines with different genetic makeup within an individual.
Proximal duplications in the 15q11-15q13 region are associated with specific neurodevelopmental phenotypes.

Observation:

A 4-year-old boy presented with developmental delay and a history of seizures.
Clinical examination revealed a normal phenotype despite the neurological symptoms.
Karyotyping or chromosomal microarray analysis detected a mosaic proximal duplication of chromosome 15 (15q11-15q13).

Findings:

The genetic analysis confirmed a mosaic duplication in the 15q11-15q13 region.

Related Experiment Videos

The presence of both duplicated and normal cell lines (mosaicism) was a key finding.

The duplication occurred proximally on the long arm of chromosome 15.

Implications:

This case highlights the importance of genetic testing in children with unexplained developmental delay and seizures.
Mosaic chromosomal duplications can lead to variable clinical presentations, even with a normal phenotype.
Understanding the spectrum of 15q duplications is crucial for genetic counseling and clinical management.