Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).
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.
Hand
Matthew
M
University of Washington School of Medicine, Seattle, Washington, USA.
Gray
Carolyn
C
Glew
Gwen
G
Tsuchiya
Karen D
KD
D000328:Adult; D002460:Cell Line; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D007446:Chromosome Inversion / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011247:Pregnancy