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Updated: Jun 8, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p)
Matthew Hand1, Carolyn Gray, Gwen Glew
1University of Washington School of Medicine, Seattle, Washington, USA.
Abstract:
We report on a female with a mild phenotype who is mosaic for two cell lines with different structural abnormalities of 8p, both resulting in large genomic imbalances. Molecular cytogenetic and G-banded chromosome analyses demonstrated that one cell line has a large terminal 8p deletion, with a breakpoint in 8p21.2. The other cell line contains a derivative chromosome 8, known as an inv dup del(8p) in the literature. This female has developmental delay, but lacks congenital anomalies that are associated with either 8p abnormality in non-mosaic form. The attenuated phenotype in this individual may be due to compensation of one cell line for imbalances in the other cell line.
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